Ectodermal Disorders 63 Gene Exome Panel

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	London North East RGC GOSH	112	£850
Testing for known mutations in family members Note: one/two amplicon(s)	Postnatal Diagnosis Routine	London North East RGC GOSH	14	£130/£185
Testing for known mutations in family members Note: one/two amplicon(s)	Postnatal Diagnosis Urgent	London North East RGC GOSH	14	£130/£185
Testing for known mutations in family members Note: includes MCC	Prenatal Diagnosis	London North East RGC GOSH	3	£370

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Ablepharon-Macrostomia Syndrome	AMS	200110	Genetic Test Registry
Acrokeratosis Verruciformis	AKV	101900	Genetic Test Registry
Adermatoglyphia Fingerprints, Absence Of	ADERM 0	136000	Genetic Test Registry
ADULT Syndrome Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome		103285	Genetic Test Registry
Amelogenesis Imperfecta, Type IA Amelogenesis Imperfecta, Hypoplastic Type IA	AI1A 0	104530	Genetic Test Registry
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Aec Syndrome Hay-Wells Syndrome		106260	Genetic Test Registry
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Arrhythmogenic Right Ventricular Cardiomyopathy 11 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included	ARVD11 ARVC11	610476	Genetic Test Registry
Barber-Say Syndrome	BBRSAY	209885	Genetic Test Registry
Chondrodysplasia Punctata 1, X-Linked Recessive Chondrodysplasia Punctata, Brachytelephalangic Cpxr	CDPX1	302950	Genetic Test Registry
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 7, Included Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly Ectodermal Dysplasia, Margarita Island Type Ectodermal Dysplasia, Type 4 Orofacial Cleft 7, Included Zlotogora-Ogur Syndrome	CLPED1 ED4	225060	Genetic Test Registry
Clouston Syndrome Clouston Hidrotic Ectodermal Dysplasia Ectodermal Dysplasia 2, Hidrotic Ectodermal Dysplasia, Hidrotic Ectodermal Dysplasia, Hidrotic, Autosomal Dominant	ED2	129500	Genetic Test Registry
Cutaneous Telangiectasia And Cancer Syndrome, Familial Telangiectasia, Cutaneous, And Cancer Syndrome, Familial	FCTCS	614564	Genetic Test Registry
Darier-White Disease	DAR	124200	Genetic Test Registry
Dermatopathia Pigmentosa Reticularis	DPR	125595	Genetic Test Registry
Dowling-Degos Disease 1	DDD1	179850	Genetic Test Registry
Dowling-Degos Disease 2 .	DDD2 0	615327	Genetic Test Registry
Dowling-Degos Disease 4	DDD4	615696	Genetic Test Registry
Dyskeratosis Congenita, X-Linked Zinsser-Cole-Engman Syndrome	DKCX DKCX	305000	Genetic Test Registry
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Christ-Siemens-Touraine Syndrome CST Syndrome Ectodermal Dysplasia 1 Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, Hypohidrotic, 1 Ectodermal Dysplasia, Hypohidrotic, X-Linked	XHED ED1 EDA HED HED1 XHED	305100	Genetic Test Registry
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant	ECTD10A ED3 EDA3 HED	129490	Genetic Test Registry
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	ECTD10B	224900	Genetic Test Registry
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant	ECTD11A HED	614940	Genetic Test Registry
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, Hypohidrotic	ECTD11B EDA HED	614941	Genetic Test Registry
Ectodermal Dysplasia 4, Hair/Nail Type Ectodermal Dysplasia, 'Pure' Hair/Nail Type	ECTD4 0	602032	Genetic Test Registry
Ectodermal Dysplasia 9, Hair/Nail Type	ECTD9	614931	Genetic Test Registry
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema	OLEDAID	300301	Genetic Test Registry
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant		612132	Genetic Test Registry
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	EEMS	225280	Genetic Test Registry
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency		300291	Genetic Test Registry
Ectodermal Dysplasia-Syndactyly Syndrome 1	EDSS1	613573	Genetic Test Registry
Ectodermal Dysplasia/Short Stature Syndrome	ECTDS	616029	Genetic Test Registry
Ectodermal Dysplasia/Skin Fragility Syndrome McGrath Syndrome	0 0	604536	Genetic Test Registry
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 Eec Syndrome 3	EEC3	604292	Genetic Test Registry
Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bullous Ichthyosiform Erythroderma Epidermolytic Hyperkeratosis Epidermolytic Hyperkeratosis, Late-Onset, Included	EHK BCIE BIE EHK	113800	Genetic Test Registry
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome	EPKHE SAM	615508	Genetic Test Registry
Erythrokeratodermia Variabilis Et Progressiva Erythrokeratodermia Figurata, Congenital Familial, In Plaques Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis With Erythema Gyratum Repens Erythrokeratodermia, Progressive Symmetric	EKVP EKV PSEK	133200	Genetic Test Registry
Focal Dermal Hypoplasia Fodh\|Goltz Syndrome Goltz-Gorlin Syndrome	FDH DHOF	305600	Genetic Test Registry
Focal Facial Dermal Dysplasia 3, Setleis Type	FFDD3	227260	Genetic Test Registry
Histiocytosis-Lymphadenopathy Plus Syndrome Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness\|Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H	PHID\|HJCD\|SHML	602782	Genetic Test Registry
Hypotrichosis 2 .	HYPT2 0	146520	Genetic Test Registry
Hypotrichosis 4 Hypotrichosis, Marie Unna Type, 1 Marie Unna Hereditary Hypotrichosis 1	HYPT4 MUHH1	146550	Genetic Test Registry
Hypotrichosis 6	HYPT6	607903	Genetic Test Registry
Hypotrichosis 7 Hypotrichosis, Autosomal Recessive Hypotrichosis, Localized, Autosomal Recessive 2 Hypotrichosis, Total, Mari Type	HYPT7 AH LAH2	604379	Genetic Test Registry
Hypotrichosis 8 Hypotrichosis, Localized, Autosomal Recessive 3	HYPT8 LAH3	278150	Genetic Test Registry
Hypotrichosis And Recurrent Skin Vesicles		613102	Genetic Test Registry
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	HLTS	607823	Genetic Test Registry
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	HLTRS	137940	Genetic Test Registry
Ichthyosis Hystrix, Curth-Macklin Type	IHCM	146590	Genetic Test Registry
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis		607602	Genetic Test Registry
Ichthyosis, Hystrix-Like, With Deafness HID Syndrome Hystrix-like Ichthyosis With Deafness	HID 0	602540	Genetic Test Registry
IFAP Syndrome With Or Without BRESHECK Syndrome Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia	0	308205	Genetic Test Registry
Incontinentia Pigmenti Bloch-Sulzberger Syndrome Incontinentia Pigmenti, Familial Male-Lethal Type Incontinentia Pigmenti, Type II, Formerly	IP IP2, FORMERLY	308300	Genetic Test Registry
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant KID Syndrome, Autosomal Dominant	0	148210	Genetic Test Registry
Keratoderma, Palmoplantar, With Deafness 0	0	148350	Genetic Test Registry
Keratosis Follicularis Spinulosa Decalvans, X-Linked	KFSDX	308800	Genetic Test Registry
Keratosis Palmoplantaris Striata II Keratoderma, Palmoplantar, Striate Form II Striate Palmoplantar Keratoderma II	PPKS2 KPPS2 SPPK2	612908	Genetic Test Registry
Keratosis Palmoplantaris Striata III .	PPKS3 0	607654	Genetic Test Registry
Knuckle Pads, Leukonychia, And Sensorineural Deafness Bart-Pumphrey syndrome	0	149200	Genetic Test Registry
Laryngoonychocutaneous Syndrome	LOCS	245660	Genetic Test Registry
MACS Syndrome Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis		613075	Genetic Test Registry
Menkes Disease Copper Transport Disease Kinky Hair Disease Menkes Syndrome Steely Hair Disease	MENKE MK MNK	309400	Genetic Test Registry
Naegeli-Franceschetti-Jadassohn Syndrome Naegeli Syndrome NFJ Syndrome	NFJS 0	161000	Genetic Test Registry
Naxos Disease Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Mal De Naxos Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities	NXD	601214	Genetic Test Registry
Noonan Syndrome-Like Disorder With Loose Anagen Hair Tosti Syndrome	NSLH	607721	Genetic Test Registry
Odontoonychodermal Dysplasia	OODD	257980	Genetic Test Registry
Omenn Syndrome Reticuloendotheliosis, Familial, With Eosinophilia Severe Combined Immunodeficiency With Hypereosinophilia		603554	Genetic Test Registry
Pachyonychia Congenita 1 Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita, Jadassohn-Lewandowsky Type Pachyonychia Congenita, Type 1	PC1	167200	Genetic Test Registry
Pachyonychia Congenita 2 Pachyonychia Congenita, Jackson-Lawler Type Pachyonychia Congenita, Type 2	PC2	167210	Genetic Test Registry
Pachyonychia Congenita 3 0	PC3 0	615726	Genetic Test Registry
Pachyonychia Congenita 4 0	PC4 0	615728	Genetic Test Registry
Palmoplantar Keratoderma And Woolly Hair	PPKWH	616099	Genetic Test Registry
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	PPKS1	148700	Genetic Test Registry
Palmoplantar Keratoderma With Congenital Alopecia Keratoderma-Hypotrichosis-Leukonychia PPKCA, Stevanovic Type Totalis Syndrome	PPKCA1 0	104100	Genetic Test Registry
Palmoplantar Keratoderma, Epidermolytic Hyperkeratosis, Localized Epidermolytic Keratoderma, Epidermolytic Palmoplantar Keratosis Of Greither Keratosis Palmaris Et Plantaris Familiaris Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included Palmoplantar Keratoderma, Vorner Type Tylosis Unilateral Palmoplantar Verrucous Nevus, Included Unna-Thost Disease, Epidermolytic	EPPK	144200	Genetic Test Registry
Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked		300918	Genetic Test Registry
Palmoplantar Keratoderma, Nonepidermolytic	NEPPK	600962	Genetic Test Registry
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	FNEPPK1	613000	Genetic Test Registry
Peeling Skin Syndrome 1	PSS1	270300	Genetic Test Registry
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	PLACK	616295	Genetic Test Registry
Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type	PN	604173	Genetic Test Registry
Rapp-Hodgkin Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate	RHS	129400	Genetic Test Registry
Reticulate Acropigmentation Of Kitamura	RAK	615537	Genetic Test Registry
Rothmund-Thomson Syndrome Poikiloderma Atrophicans And Cataract	RTS	268400	Genetic Test Registry
Schopf-Schulz-Passarge Syndrome Eccrine Tumors With Ectodermal Dysplasia Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis	SSPS	224750	Genetic Test Registry
Steatocystoma Multiplex		184500	Genetic Test Registry
Tooth Agenesis, Selective, 4	STHAG4	150400	Genetic Test Registry
Witkop Syndrome Dysplasia Of Nails With Hypodontia Tooth-And-Nail Syndrome	TNS	189500	Genetic Test Registry

Genes	Symbol	MIM	HGNC
ADAM metallopeptidase domain 10 a disintegrin and metalloproteinase domain 10 CD156c HsT18717 kuz	ADAM10 MADM	602192	188
arylsulfatase E (chondrodysplasia punctata 1)	ARSE CDPX CDPX1	300180	719
ATPase copper transporting alpha ATPase, Cu++ transporting, alpha polypeptide	ATP7A MNK	300011	869
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 SERCA2	ATP2A2 ATP2B DAR	108740	812
ATR serine/threonine kinase ataxia telangiectasia and RAD3 related ATR gene FRAP-related protein 1	ATR MEC1	601215	882
cadherin 3	CDH3 CDHP PCAD	114021	1762
calpastatin 0	CAST 0	114090	1515
corneodesmosin D6S586E	CDSN 0	602593	1802
desmocollin 2 desmocollin 3, formerly desmosomal glycoprotein II/III	DSC2 CDHF2 DG2 DG2/3 DSC3, FORMERLY	125645	3036
desmocollin 3 CDHF3 DSC DSC1 DSC2	DSC3 DSC4	600271	3037
desmoglein 1 CDHF4	DSG1 DSG	125670	3048
desmoglein 4 CDHF13 LAH	DSG4 0	607892	21307
desmoplakin desmoplakin I desmoplakin II	DSP DPI DPII DSPI DSPII KPPS2 PPKS2	125647	3052
DNA cross-link repair 1C DNA cross-link repair 1c (PSO2 homolog, s. cerevisiae)	DCLRE1C SCIDA	605988	17642
dyskerin pseudouridine synthase 1 dyskeratosis congenita 1, dyskerin dyskerin NOPP140-associated protein, 57-KD	DKC1 DKC	300126	2890
ectodysplasin A ectodysplasin ectodysplasin A ectodysplasin A1 isoform, included ectodysplasin A2 isoform, included ED1 gene EDA-A1, included EDA-A2, included EDA1 gene	EDA ED1 ED1-A1 ED1-A2 EDA EDA1 EDA2 HED XHED XLHED	300451	3157
ectodysplasin A receptor downless, mouse, homolog of ectodysplasin 1, anhidrotic receptor ectodysplasin A1 isoform receptor ectodysplasin receptor EDA-A1 receptor EDA-A1R	EDAR DL ED1R ED3 ED5 EDA1R EDA3 EDAR	604095	2895
ectodysplasin A2 receptor 0	EDA2R EDA-A2R EDAA2R TNFRSF27 XEDAR	300276	17756
EDAR associated death domain	EDARADD	606603	14341
gap junction protein, alpha 1 gap junction protein, alpha 1, 43kDa gap junction protein, alpha 1, 43kDa (connexin 43) gap junction protein, alpha-like	GJA1 SDTY3	121014	4274
gap junction protein, beta 2 connexin 26 gap junction protein, 26-kd gap junction protein, beta 2, 26kDa gap junction protein, beta 2, 26kda (connexin 26) gap junction protein, beta-2	GJB2 CX26 DFNA3 DFNB1 NSRD1	121011	4284
gap junction protein, beta 3 erythrokeratodermia variabilis gap junction protein, beta 3, 31kD (connexin 31) gap junction protein, beta 3, 31kDa gap junction protein, beta 3, 31kDa (connexin 31)	GJB3 DFNA2 EKV	603324	4285
gap junction protein, beta 4 CX30.3	GJB4 0	605425	4286
gap junction protein, beta 6 connexin 30 gap junction protein, beta 6 (connexin 30) gap junction protein, beta 6, 30kDa gap junction protein, beta-6	GJB6 CX30 DFNA3 ED2 EDH HED	604418	4288
grainyhead-like transcription factor 2 deafness, autosomal dominant 28 grainyhead-like 2 (Drosophila) transcription factor CP2-like 3	GRHL2 BOM	608576	2799
homeobox C13 0	HOXC13 HOX3 HOX3G	142976	5125
HR, lysine demethylase and nuclear receptor corepressor AU hair growth associated	HR ALUNC	602302	5172
inhibitor of nuclear factor kappa B kinase subunit gamma IKK-gamma incontinentia pigmenti inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma NF-KAPPA-B Essential Modulator	IKBKG IP1	300248	5961
junction plakoglobin catenin (cadherin-associated protein), gamma 80kDa catenin, gamma desmoplakin III plakoglobin	JUP CTNNG DP III DP3 PKGB	173325	6207
keratin 1 cytokeratin 1 epidermolytic hyperkeratosis keratin 1	KRT1 EHK1 KRT1A	139350	6412
keratin 14 cytokeratin 14 keratin 14 keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)	KRT14 14 EBS3 EBS4	148066	6416
keratin 16 cytokeratin 16 focal non-epidermolytic palmoplantar keratoderma keratin 16	KRT16 K16 NEPPK	148067	6423
keratin 17 cytokeratin 17	KRT17 K17 PCHC1	148069	6427
keratin 5 epidermolysis bullosa simplex, dowling-meara/kobner/weber-cockayne types keratin 5	KRT5 EBS2 K5 KRT5A	148040	6442
keratin 6A keratin, epidermal type II, K6A	KRT6A K6A	148041	6443
keratin 6B keratin, epidermal type II, K6B	KRT6B K6B KRTL1	148042	6444
keratin 85 keratin 85, type II keratin, hair, basic, 5	KRT85 KRTHB5	602767	6462
KN motif and ankyrin repeat domains 2 KIAA1518	KANK2 ANKRD25 MXRA3	614610	29300
laminin subunit alpha 3 BM600-150kDa epiligrin, k kalinin-165kDa laminin, alpha 3 laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) nicein-150kDa	LAMA3 LAMNA	600805	6483
laminin subunit beta 3 BM600-125kDa kalinin-140kDa laminin, beta 3 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) nicein-125kDa	LAMB3 LAMNB1	150310	6490
lipase H lipase, member H	LIPH 0	607365	18483
lysophosphatidic acid receptor 6 purinergic receptor P2Y, G-protein coupled, 5	LPAR6 P2RY5	609239	15520
membrane bound transcription factor peptidase, site 2 keratosis follicularis spinulosa decalvans membrane-bound transcription factor protease, site 2	MBTPS2 KFSD	300294	15455
msh homeobox 1 homeobox 7 msh homeo box homolog 1 (drosophila) msh, drosophila, homolog of, 1 muscle segment homeobox, drosophila, homolog of, 1	MSX1 HOX7 HYD1	142983	7391
nectin cell adhesion molecule 1 ED4 HVEC PVRL1	NECTIN1 CD111 CLPED1 HIgR OFC7 PRR PRR1 PVRR1 SK-12	600644	9706
nectin cell adhesion molecule 4 LNIR nectin-4 PRR4	NECTIN4 PVRL4	609607	19688
NFKB inhibitor alpha IkappaBalpha IKBA MAD-3	NFKBIA NFKBI	164008	7797
plakophilin 1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	PKP1 0	601975	9023
porcupine O-acyltransferase MG61 por PORC porcupine homolog (Drosophila) PPN	PORCN DHOF	300651	17652
protein O-fucosyltransferase 1 FUT12 KIAA0180 O-FUT, O-Fuc-T	POFUT1 0	607491	14988
protein O-glucosyltransferase 1 9630046K23Rik hCLP46 KDELCL1 MDS010 MDSRP MGC32995 Rumi	POGLUT1 C3orf9 KTELC1	615618	22954
Ras and Rab interactor 2	RIN2	610222	18750
recombination activating 1 recombination activating gene 1 recombination-activating gene 1	RAG1 MGC43321	179615	9831
recombination activating 2 recombination activating gene 2 recombination-activating gene 2	RAG2	179616	9832
RecQ-like helicase 4 DNA helicase, RECQ-like, type 4 RecQ protein-like 4	RECQL4 RECQ4	603780	9949
SHOC2, leucine-rich repeat scaffold protein RAS-binding protein SUR8, c. elegans, homolog of soc-2 (suppressor of clear, C.elegans) homolog soc-2 suppressor of clear homolog (C. elegans)	SHOC2 SUR8	602775	15454
solute carrier family 29 member 3 ENT3 FLJ11160	SLC29A3 0	612373	23096
SRY-box 18 0	SOX18 0	602148	11194
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, containing DEAD/H box 1 0	SMARCAD1 0	612761	18398
tumor protein p63 tumor protein P53-competing protein tumor protein P53-like tumor protein P73-like	TP63 EEC3 KET NBP OFC8 P51 P53CP P63 P73H P73L SHFM4 TP53CP TP53L TP73L	603273	15979
twist family bHLH transcription factor 2	TWIST2 BHLHA39 DERMO-1 DERMO1	607556	20670
U6 snRNA biogenesis phosphodiesterase 1 FLJ13154 HVSL1 Mpn1	USB1 C16orf57	613276	25792
Wnt family member 10A wingless-type MMTV integration site family, member 10A	WNT10A	606268	13829

Testing Criteria & Gene Dossiers

Testing criteria	Ectodermal Disorders 63 Gene Exome Panel

Gene dossier	Dermatology 265 Gene Exome Panel (consisting of 8 tests) London North East RGC GOSH

Specialties

Specialties	Clinical Genetics Dental Surgery, Paediatric Dermatology, Adult Dermatology, Paediatric