Testing Criteria

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Testing criteria Disorders Genes Date
Baraitser-Winter Syndrome
  • Baraitser-Winter Syndrome 1
    • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Baraitser-Winter Syndrome 2
  • actin, beta
    • actin, cytoplasmic, 1
    • beta-actin
  • actin, gamma 1
    • actin, cytoplasmic, 2
    • actin, gamma
    • actin, gamma-1
    • cytoskeletal gamma-actin
2013
Bardet-Biedl Syndromes 20 Gene Panel
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl Syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 13
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 15
  • Bardet-Biedl Syndrome 16
  • Bardet-Biedl Syndrome 17
  • Bardet-Biedl Syndrome 18
  • Bardet-Biedl Syndrome 19
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 3
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 5
  • Bardet-Biedl Syndrome 6
  • Bardet-Biedl Syndrome 7
  • Bardet-Biedl Syndrome 8
  • Bardet-Biedl Syndrome 9
  • ADP ribosylation factor-like 6
    • ADP ribosylation factor like GTPase 6
    • ARF-like 6
    • BBS3 gene
  • Bardet-Biedl syndrome 1
    • BBS1 gene
  • Bardet-Biedl syndrome 10
    • BBS10 gene
    • chromosome 12 open reading frame 58
  • Bardet-Biedl syndrome 12
    • chromosome 4 open reading frame 24
  • Bardet-Biedl syndrome 2
    • BBS2 gene
  • Bardet-Biedl syndrome 4
    • BBS4 gene
  • Bardet-Biedl syndrome 5
    • BBS5 gene
  • Bardet-Biedl syndrome 7
    • BBS7 gene
  • Bardet-Biedl syndrome 9
    • BBS9 gene
    • parathyroid hormone-responsive B1 gene
    • PTH-responsive B1 gene
  • BBSome interacting protein 1
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • coiled-coil domain containing 28B
  • intraflagellar transport 27
  • leucine zipper transcription factor like 1
  • McKusick-Kaufman syndrome
    • BBS6 gene
    • MKKS gene
  • Meckel syndrome, type 1
  • serologically defined colon cancer antigen 8
  • tetratricopeptide repeat domain 8
    • BBS8 gene
  • tripartite motif containing 32
    • BBS11 gene
    • limb girdle muscular dystrophy 2H (autosomal recessive)
    • TAT-interacting protein, 72-kDa
    • tripartite motif-containing 32
  • WD repeat containing planar cell polarity effector
2015
Bartter Syndrome, Type 3
  • Bartter Syndrome, Type 3
    • Bartter Syndrome, Classic
    • Bartter Syndrome, Type 3, With Hypocalciuria, Included
  • chloride voltage-gated channel Kb
    • chloride channel KB
2009
Beckwith-Wiedemann Syndrome
  • Beckwith-Wiedemann Syndrome
    • Beckwith-Wiedemann Syndrome Chromosome Region, Included
    • Emg Syndrome
    • Exomphalos-Macroglossia-Gigantism Syndrome
    • Wiedemann-Beckwith Syndrome
  • cyclin-dependent kinase inhibitor 1C
    • cyclin-dependent kinase inhibitor 1C
    • cyclin-dependent kinase inhibitor 1C (p57, KIP2)
    • p57(KIP2)
  • H19, imprinted maternally expressed transcript (non-protein coding)
    • H19, imprinted maternally expressed transcript h19
    • H19, imprinted maternally expressed untranslated mRNA
  • insulin-like growth factor 2
    • insulin-like growth factor 2 (somatomedin a)
    • somatomedin a
  • KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
    • KCNQ1 overlapping transcript 1 (non-protein coding)
    • long QT intronic transcript 1
    • non-protein coding RNA 12
2008
Birt-Hogg-Dube Syndrome
  • Birt-Hogg-Dube Syndrome
    • Fibrofolliculomas With Trichodiscomas And Acrochordons
    • Hornstein-Knickenberg Syndrome
  • folliculin
    • BHD gene
2013
Blepharophimosis, Ptosis, And Epicanthus Inversus
  • Blepharophimosis, Ptosis, And Epicanthus Inversus
    • Bpes With Duane Retraction Syndrome, Included
    • Bpes With Ovarian Failure, Included
    • Bpes Without Ovarian Failure, Included
    • Bpes, Type I, Autosomal Recessive, Included
    • Bpes, Type I, Included
    • Bpes, Type II, Included
  • forkhead box L2
    • pituitary forkhead factor, mouse, homolog of
2009
Bloom Syndrome (Cytogenetic Laboratory Test)
  • Bloom Syndrome (Cytogenetic Laboratory Test)
  • Bloom syndrome, RecQ helicase-like
    • BLM gene
    • DNA helicase, RECQ-like, type 2
2012
Brain Malformation Disorders, Cortical, 43 Gene Panel
  • Baraitser-Winter Syndrome 1
    • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Baraitser-Winter Syndrome 2
  • Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
    • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
    • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
    • Cerebellar Hypoplasia, VLDLR-Associated
    • Dysequilibrium Syndrome
  • Chudley-Mccullough Syndrome
    • Deafness, Autosomal Recessive 82
    • Deafness, Sensorineural, With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts
  • Cortical Dysplasia, Complex, With Other Brain Malformations 1
    • 0
  • Cortical Dysplasia, Complex, With Other Brain Malformations 4
  • Cortical Dysplasia, Complex, With Other Brain Malformations 5
  • Cortical Dysplasia, Complex, With Other Brain Malformations 7
    • Polymicrogyria, Symmetric Or Asymmetric
  • Cortical Dysplasia, Complex, With Other Brain Malformations 8
    • Polymicrogyria With Optic Nerve Hypoplasia
  • Cortical Malformations, Occipital
  • Dystonia 1, Torsion, Autosomal Dominant
    • Dystonia Musculorum Deformans 1
    • Early-Onset Torsion Dystonia
    • Torsion Dystonia 1, Autosomal Dominant
  • Goldberg-Shprintzen Syndrome
    • Goldberg-Shprintzen Megacolon Syndrome
  • Leukodystrophy, Hypomyelinating, 6
    • Leukodystrophy, Hypomyelinating, With Atrophy of the Basal Ganglia and Cerebellum
  • Lissencephaly 1
    • Lissencephaly Sequence, Isolated
    • Lissencephaly, Classic
    • Subcortical Band Heterotopia, Included
    • Subcortical Laminar Heterotopia, Included
  • Lissencephaly 2
    • Lissencephaly Syndrome, Norman-Roberts Type
    • Norman-Roberts Syndrome
  • Lissencephaly 3
  • Lissencephaly 4
    • Lissencephaly 4, With Microcephaly
  • Lissencephaly 5
  • Lissencephaly, X-Linked, 1
    • Dc Syndrome, Included
    • Double Cortex Syndrome, Included
    • Lissencephaly And Agenesis Of Corpus Callosum
    • Subcortical Band Heterotopia, X-Linked, Included
    • Subcortical Laminar Heterotopia, X-Linked, Included
  • Lissencephaly, X-Linked, 2
    • Hydranencephaly and Abnormal Genitalia, included
    • Lissencephaly, X-Linked, With Ambiguous Genitalia
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
    • MEG-PMG-MEGACC Syndrome
    • Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development
    • Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
  • Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
    • Mental Retardation, X-Linked, Syndromic, NAJM Type
    • MICPCH Syndrome
  • Mental Retardation, Autosomal Dominant 13
    • Mental Retardation, Autosomal Dominant, 13, With Neuronal Migration Defects
  • Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
    • Mental Retardation, X-Linked 60, Formerly
  • Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
  • Microcephaly 5, Primary, Autosomal Recessive
    • Microcephaly, Primary Autosomal Recessive, 5
  • Muscular Dystrophy, Congenital Merosin-Deficient, 1A
    • Muscular Dystrophy, Congenital Merosin-Deficient
    • Muscular Dystrophy, Congenital, Due To Partial LAMA2 Deficiency, Included
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
    • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
    • COD-MD Syndrome
    • Hard Syndrome
    • Hydrocephalus, Agyria, And Retinal Dysplasia
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, POMT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, TMEM5-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
    • Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, POMT2-related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, POMGNT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
    • Fukuyama Congenital Muscular Dystrophy
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, ISPD-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
    • Muscular Dystrophy, Congenital, Large-Related
    • Muscular Dystrophy, Congenital, Type 1d
  • Periventricular Heterotopia With Microcephaly, Autosomal Recessive
    • Heterotopia, Periventricular, Autosomal Recessive
    • Periventricular Nodular Heterotopia 2
  • Periventricular Nodular Heterotopia 1
    • Heterotopia, Familial Nodular
    • Heterotopia, Periventricular Nodular, With Frontometaphyseal Dysplasia, Included
    • Heterotopia, Periventricular, X-Linked Dominant
    • Nodular Heterotopia, Bilateral Periventricular
    • Periventricular Nodular Heterotopia 1
  • Polymicrogyria, Bilateral Frontoparietal
    • Cerebellar Ataxia With Neuronal Migration Defect
  • Porencephaly 1
    • Hemiplegia, Infantile, With Porencephaly Porencephaly, Type 1
    • Porencephaly, Type 1
    • Porencephaly, Type 1, Autosomal Dominant
  • Pseudo-Torch Syndrome 1
    • Band-Like Calcification With Simplified Gyration And Polymicrogyria
    • Pseudo-Torch Syndrome
  • Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked
  • ...data in process of being uploaded
  • abnormal spindle microtubule assembly
    • abnormal spindle-like, microcephaly-associated
    • ASP (abnormal spindle)-like, microcephaly associated (drosophila)
    • ASP abnormal spindle-like, microcephaly associated drosophila
    • ASP, drosophila, homolog of
    • MCPH5 gene
  • actin, beta
    • actin, cytoplasmic, 1
    • beta-actin
  • actin, gamma 1
    • actin, cytoplasmic, 2
    • actin, gamma
    • actin, gamma-1
    • cytoskeletal gamma-actin
  • adhesion G protein-coupled receptor G1
    • G protein-coupled receptor 56
  • ADP-ribosylation factor guanine nucleotide-exchange factor 2
    • ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • AKT serine/threonine kinase 3
    • v-akt murine thymoma viral oncogene homolog 3
  • aristaless related homeobox
    • aristaless-related homeobox, x-linked
    • CT121
    • EIEE1
    • ISSX
  • calcium/calmodulin dependent serine protein kinase
    • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    • CAMGUK, drosophila, homolog of
    • trinucleotide repeat containing 8
    • vertebrate LIN2 homolog
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • cyclin D2
  • doublecortin
    • doublecortex; lissencephaly, x-linked (doublecortin)
    • doublecortin
  • dynein, cytoplasmic 1, heavy chain 1
    • CMT2O
    • DHC1
    • Dnchc1
    • dynein, cytoplasmic, heavy polypeptide 1
    • HL-3
    • p22
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • fukutin related protein
    • fukutin-related protein
  • G protein signaling modulator 2
    • deafness, autosomal recessive 82
    • G-protein signalling modulator 2 (AGS3-like, C. elegans)
  • isoprenoid synthase domain containing
    • hCG_1745121
    • IspD
    • Nip
  • KIF1 binding protein
    • KBP
    • KIAA1279
    • Kinesin binding protein
    • TTC20
  • laminin subunit alpha 2
    • laminin 2
    • laminin 2, heavy chain
    • laminin m
    • laminin, alpha-2
    • merosin,
  • laminin subunit beta 1
    • CLM, cutis laxa with marfanoid phenotype, laminin, beta 1
    • laminin, beta 1
  • laminin subunit gamma 3
    • DKFZp434E202
    • laminin, gamma 3
  • LARGE xylosyl- and glucuronyltransferase 1
    • acetylglucosaminyltransferase-like protein
    • LARGE1
    • like-glycosyltransferase
  • nudE neurodevelopment protein 1
    • nudE nuclear distribution E homolog 1 (A. nidulans)
    • nudE nuclear distribution gene E homolog 1 (A. nidulans)
  • occludin
  • oligophrenin 1
    • mental retardation, X-linked 60
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • phosphoinositide-3-kinase, regulatory subunit 2
  • platelet-activating factor acetylhydrolase 1B, regulatory subunit 1
    • LIS 1 gene
    • lissencephaly-1 gene
    • PAFAH 1b1
    • platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit
    • platelet-activating factor acetylhydrolase, isoform IB, alpha subunit 45kda
  • protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
  • protein O-mannosyltransferase 1
  • protein O-mannosyltransferase 2
  • reelin
  • sushi repeat containing protein, X-linked 2
    • sushi-repeat-containing protein, X-linked 2
  • transmembrane protein 5
  • tubulin alpha 1A
    • tubulin, alpha, brain-specific
  • tubulin alpha 8
    • tubulin, alpha-like 2
  • tubulin beta 2A class IIa
    • dJ40E16.7
  • tubulin beta 2B class IIb
    • tubulin, beta 2B
  • tubulin beta 3 class III
    • beta-4
    • class III beta-tubulin
    • tubulin, beta 3
  • tubulin beta 4A class IVa
    • beta-5
  • tubulin gamma 1
    • tubulin, gamma 1
    • tubulin, gamma polypeptide
  • very low density lipoprotein receptor
  • WD repeat domain 62
    • chromosome 19 open reading frame 14
    • microcephaly, primary autosomal recessive 2
2016
Branchiotorenal Syndrome/ Branchiootic Syndrome 2009
Branchiotorenal Syndrome/Branchiootic Syndrome
  • Branchiootic Syndrome 1
    • BO Syndrome 1
    • Branchiootic Dysplasia
  • EYA transcriptional coactivator and phosphatase 1
    • eyes absent 1
    • eyes absent homolog 1 (Drosophila)
    • eyes absent, drosophila, homolog of, 1
2009

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