Osteopetrosis Disorders 21 Gene Panel

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Buschke-Ollendorff Syndrome Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis Dermatofibrosis, Disseminated, With Osteopoikilosis Dermatoosteopoikilosis Osteopathia Condensans Disseminata	BOS	166700	Genetic Test Registry
Camurati-Engelmann Disease Diaphyseal Dysplasia 1, Progressive Engelmann Disease Progressive Diaphyseal Dysplasia	CAEND CAEND CED DPD1 PDD	131300	Genetic Test Registry
Chondrocalcinosis 2 Calcium Gout Calcium Pyrophosphate Arthropathy Calcium Pyrophosphate Dihydrate Deposition Disease Chondrocalcinosis, Familial Articular	CCAL2 CPPDD	118600	Genetic Test Registry
Chondrodysplasia, Blomstrand Type	BOCD	215045	Genetic Test Registry
Craniometaphyseal Dysplasia, Autosomal Dominant Craniometaphyseal Dysplasia, Jackson Type	CMDD CMD CMDJ	123000	Genetic Test Registry
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema	OLEDAID	300301	Genetic Test Registry
Eiken Syndrome Bone Modeling Defect Of Hands And Feet Eiken Skeletal Dysplasia		600002	Genetic Test Registry
Enchondromatosis, Multiple, Ollier Type Dyschondroplasia Ollier Disease Osteochondromatosis		166000	Genetic Test Registry
Leukocyte Adhesion Deficiency, Type III Integrin Activation Deficiency Disease Leukocyte Adhesion Deficiency 1 Variant Leukocyte Adhesion Deficiency 3	LAD3 IADD LAD1V	612840	Genetic Test Registry
Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Murk Jansen Type		156400	Genetic Test Registry
Osteopathia Striata With Cranial Sclerosis Hyperostosis Generalisata With Striations	OSCS	300373	Genetic Test Registry
Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Dominant, Type I	OPTA1	607634	Genetic Test Registry
Osteopetrosis, Autosomal Dominant 2 Albers-Schonberg Disease, Autosomal Dominant Marble Bones, Autosomal Dominant Osteopetrosis, Autosomal Dominant, Type II Osteosclerosis Fragilis Generalisata	OPTA2	166600	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 1 Albers-Schonberg Disease, Autosomal Recessive Marble Bones, Autosomal Recessive Optb1 Osteopetrosis, Autosomal Recessive	OPTB1	259700	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Mild Autosomal Recessive Form Osteopetrosis, Osteoclast-Poor	OPTB2	259710	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 3 Carbonic Anhydrase II Deficiency Guibaud-Vainsel Syndrome Marble Brain Disease Osteopetrosis With Renal Tubular Acidosis	OPTB3	259730	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Infantile Malignant 2	OPTB4	611490	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 5 Osteopetrosis, Infantile Malignant 3	OPTB5	259720	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, Autosomal Recessive, Intermediate Form	OPTB6	611497	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia	OPTB7	612301	Genetic Test Registry
Osteopetrosis, Autosomal Recessive 8	OPTB8	615085	Genetic Test Registry
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy Brain-Bone-Fat Disease Dementia, Prefrontal, With Bone Cysts Dementia, Progressive, With Lipomembranous Polycystic Nasu-Hakola Disease Osteodysplasia Presenile Dementia With Bone Cysts	PLOSL NHD	221770	Genetic Test Registry
Pycnodysostosis Pyknodysostosis	PKND PYCD	265800	Genetic Test Registry
Raine Syndrome Osteosclerotic Bone Dysplasia, Lethal	RNS	259775	Genetic Test Registry
Sclerosteosis 1 Cortical Hyperostosis With Syndactyly	SOST1	269500	Genetic Test Registry

Genes	Symbol	MIM	HGNC
ANKH inorganic pyrophosphate transport regulator ANK, Mouse, Homolog Of ankylosis, progressive (mouse) homolog ankylosis, progressive homolog (mouse) craniometaphyseal dysplasia, Jackson type (dominant)	ANKH CMDJ	605145	15492
APC membrane recruitment protein 1 Family with sequence similarity 123B	AMER1 FAM1238	300647	26837
carbonic anhydrase 2 carbonic anhydrase b carbonic anhydrase II	CA2 CAII	611492	1373
cathepsin K cathepsin K (pycnodysostosis)	CTSK PYCD	601105	2536
chloride voltage-gated channel 7 chloride channel 7 chloride channel, voltage-sensitive 7 protein phosphatase 1, regulatory subunit 63	CLCN7 CIC-7	602727	2025
FAM20C, golgi associated secretory pathway kinase dentin matrix protein 4 family with sequence similarity 20, member C	FAM20C DMP4	611061	22140
fermitin family member 3 fermitin family (drosophila) homolog 3 fermitin family homolog 3 (Drosophila) kindlin 3 UNC112-related protein 2	FERMT3 UNC112C	607901	23151
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
LDL receptor related protein 5 low density lipoprotein receptor-related protein 5 low density lipoprotein receptor-related protein 7	LRP5 EVR4	603506	6697
LEM domain containing 3 integral inner nuclear membrane protein man antigen 1	LEMD3 MAN1	607844	28887
osteopetrosis associated transmembrane protein 1 grey-lethal, mouse, homolog of	OSTM1 GL HSPC019	607649	21652
parathyroid hormone 1 receptor parathyroid hormone receptor 1 parathyroid hormone/parathyroid hormone-related protein receptor PTH receptor PTH/PTHRP receptor	PTH1R PTHR PTHR1	168468	9608
pleckstrin homology and RUN domain containing M1 adaptor protein, 162-KD pleckstrin homology domain containing, family M (with RUN domain) member 1	PLEKHM1 AP162 KIAA0356	611466	29017
RAS guanyl releasing protein 2 calcium and diacylglycerol-regulated guanine nucleotide exchange factor I CDC25-like gene RAS guanyl releasing protein 2 (calcium and DAG-regulated)	RASGRP2 CALDAG-GEFI CDC25L	605577	9879
sclerostin	SOST VBCH	605740	13771
sorting nexin 10	SNX10	614780	14974
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 ATPase, H+ transporting, lysosomal, V0 subunit A, isoform 3 OC116, included T cell immune regulator 1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 TIRC7, included vacuolar proton pump, alpha subunit 3	TCIRG1 A3 ATP6I ATP6N1C ATP6V0A3 OC-116 OC116 TIRC7	604592	11647
TNF receptor superfamily member 11a loss of heterozygosity, chromosome 18, region 1 osteoclast differentiation factor receptor osteosarcoma tumor suppressor PDB2 gene receptor activator of NF-KAPPA-B tumor necrosis factor receptor superfamily, member 11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator	TNFRSF11A FEO	603499	11908
TNF superfamily member 11 osteoclast differentiation factor osteoprotegerin ligand receptor activator of nf-kappa-b ligand TNF-related activation-induced cytokine tumor necrosis factor (ligand) superfamily, member 11 tumor necrosis factor superfamily member 11	TNFSF11 CD254 ODF OPGL RANKL TRANCE	602642	11926
transforming growth factor, beta 1 TGF-beta transforming growth factor, beta-1	TGFB1 TGFBETA	190180	11766
TYRO protein tyrosine kinase binding protein DNAX-activation protein 12 killer activating receptor associated protein	TYROBP DAP12 KARAP PLO-SL	604142	12449

Gene dossier	Osteopetrosis Disorders 21 Gene Panel Bristol RGC

Testing criteria	Osteopetrosis Disorders 21 Gene Panel

Specialties	Clinical Genetics Paediatrics

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	Bristol RGC	112	£649
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	Bristol RGC	56	£974
Testing for known mutations in family members	Postnatal Diagnosis Routine	Bristol RGC	28	£203
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Bristol RGC	14	£305