Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R86 Hydrocephalus' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R86 Hydrocephalus'.

The content of this panel (version 2.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/179/?version=2.3) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is also a constituent panel of super panel 'Cerebral malformations'. Changes made to this panel will automatically be updated in the relevant super panel(s).

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Michael Coleman (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

107 Entities

106 reviewed, 69 green

List Entity Reviews Mode of inheritance Details
107 Entitiess
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
AP1S2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked syndromic 5, OMIM:304340
Tags
Green Green List (high evidence)
ARSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Tags
Green Green List (high evidence)
B3GALNT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Tags
Green Green List (high evidence)
B3GLCT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Peters-plus syndrome, OMIM:261540
Tags
Green Green List (high evidence)
BUB1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Joubert syndrome 9, OMIM:612285
Tags
Green Green List (high evidence)
CCDC88C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Tags
Green Green List (high evidence)
CCND2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Tags
Green Green List (high evidence)
CENPF
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Stromme syndrome, OMIM:243605
Tags
Green Green List (high evidence)
CEP83
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Nephronophthisis 18, OMIM:615862
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Brain small vessel disease with or without ocular anomalies, OMIM:175780
Tags
Green Green List (high evidence)
CRB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Ventriculomegaly with cystic kidney disease, OMIM:219730
Tags
Green Green List (high evidence)
DAG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Tags
Green Green List (high evidence)
DENND5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, OMIM:617281
Tags
Green Green List (high evidence)
DHCR24
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Desmosterolosis, OMIM:602398
Tags
Green Green List (high evidence)
EML1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green Green List (high evidence)
ERF
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Craniosynostosis 4, OMIM:600775
Tags
  • Q2_21_expert_review
Green Green List (high evidence)
FAM20C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Raine syndrome, OMIM:259775
Tags
Green Green List (high evidence)
FANCB
4 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • UKGTN
Phenotypes
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752
  • Fanconi anemia, complementation group B, OMIM:300514
Tags
Green Green List (high evidence)
FGFR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pfeiffer syndrome, OMIM:101600
Tags
Green Green List (high evidence)
FGFR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Apert syndrome, OMIM:101200
  • Crouzon syndrome, OMIM:123500
Tags
Green Green List (high evidence)
FGFR3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Achondroplasia, OMIM:100800
  • Thanatophoric dysplasia, OMIM:187600
  • Crouzon syndrome with acanthosis nigricans, OMIM:612247
  • Muenke syndrome, OMIM:602849
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
Tags
Green Green List (high evidence)
FLVCR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790
Tags
Green Green List (high evidence)
GFAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alexander disease, OMIM:203450
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
Tags
Green Green List (high evidence)
GPSM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Chudley-McCullough syndrome, OMIM:604213
Tags
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis VII, OMIM:253220
Tags
Green Green List (high evidence)
HYLS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Hydrolethalus syndrome, OMIM:236680
Tags
Green Green List (high evidence)
IDS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, OMIM:309900
Tags
Green Green List (high evidence)
ISPD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Tags
  • new-gene-name
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Tags
Green Green List (high evidence)
KIAA1109
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Alkuraya-Kucinskas syndrome, OMIM:617822
Tags
Green Green List (high evidence)
L1CAM
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Corpus callosum, partial agenesis of, OMIM:304100
  • CRASH syndrome, OMIM:303350
  • Hydrocephalus due to aqueductal stenosis, OMIM:307000
  • Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
  • Hydrocephalus with Hirschsprung disease, OMIM:307000
  • MASA syndrome, OMIM:303350
Tags
Green Green List (high evidence)
LAMB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Lissencephaly 5, OMIM:615191
Tags
Green Green List (high evidence)
LARGE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mannosidosis, alpha-, types I and II, OMIM:248500
Tags
Green Green List (high evidence)
MYMK
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
Green Green List (high evidence)
NF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurofibromatosis, type 1, OMIM:162200
Tags
Green Green List (high evidence)
NSD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Sotos syndrome 1, OMIM:117550
Tags
Green Green List (high evidence)
OSTM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 5, OMIM:259720
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Tags
  • somatic
Green Green List (high evidence)
PIK3R2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Tags
Green Green List (high evidence)
PLG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Plasminogen deficiency, type I, OMIM:217090
  • Dysplasminogenemia, OMIM:217090
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
Tags
Green Green List (high evidence)
POMGNT2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830
Tags
Green Green List (high evidence)
POMK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Tags
Green Green List (high evidence)
POMT1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670
Tags
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
Tags
Green Green List (high evidence)
PPP2R5D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mental retardation, autosomal dominant 35, OMIM:616355
Tags
Green Green List (high evidence)
PTCH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Macrocephaly/autism syndrome, OMIM:605309
Tags
Green Green List (high evidence)
RNF125
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Tenorio syndrome, OMIM:616260
Tags
Green Green List (high evidence)
RPS6KA3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Coffin-Lowry syndrome, OMIM:303600
Tags
Green Green List (high evidence)
SKI
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Shprintzen-Goldberg syndrome, OMIM:182212
Tags
Green Green List (high evidence)
SNX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 8, OMIM:615085
Tags
Green Green List (high evidence)
STRADA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Tags
Green Green List (high evidence)
SUFU
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Tags
Green Green List (high evidence)
SUMF1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Multiple sulfatase deficiency, OMIM:272200
Tags
Green Green List (high evidence)
TCF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Craniosynostosis 3, OMIM:615314
Tags
Green Green List (high evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Tags
  • new-gene-name
Green Green List (high evidence)
TWIST1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Tags
Green Green List (high evidence)
USP9X
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked 99, OMIM:300919
  • Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968
Tags
Green Green List (high evidence)
WASHC5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Ritscher-Schinzel syndrome 1, OMIM:220210
Tags
Green Green List (high evidence)
ZBTB20
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Primrose syndrome, OMIM:259050
Tags
Green Green List (high evidence)
ZIC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Holoprosencephaly 5, OMIM:609637
Tags
Green Green List (high evidence)
ZIC3
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • VACTERL association, X-linked, OMIM:314390
Tags
Amber Amber List (moderate evidence)
ARX
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Hydranencephaly with abnormal genitalia, OMIM:300215
Tags
  • watchlist
Amber Amber List (moderate evidence)
B3GNT2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120
Tags
  • watchlist
Amber Amber List (moderate evidence)
B4GAT1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Tags
  • Q3_21_rating
Amber Amber List (moderate evidence)
CLIC2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • ?Mental retardation, X-linked, syndromic 32, OMIM:300886
Tags
  • watchlist
Amber Amber List (moderate evidence)
EBP
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • MEND syndrome, OMIM:300960
Tags
  • watchlist
Amber Amber List (moderate evidence)
EEF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hydrocephaly
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
FLNA
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Otopalatodigital syndrome, type II, OMIM:304120
Tags
Amber Amber List (moderate evidence)
HDAC6
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863
Tags
  • watchlist
Amber Amber List (moderate evidence)
ICK
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
  • watchlist
Amber Amber List (moderate evidence)
KIDINS220
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • brain ventriculomegaly and limb contractures
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
KIF7
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • ?Hydrolethalus syndrome 2, OMIM:614120
Tags
  • watchlist
Amber Amber List (moderate evidence)
MPDZ
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
MTM1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Myotubular myopathy, X-linked, OMIM:310400
Tags
Amber Amber List (moderate evidence)
P4HB
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Cole-Carpenter syndrome 1, OMIM:112240
Tags
  • watchlist
Amber Amber List (moderate evidence)
PTCH2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Tags
  • watchlist
Amber Amber List (moderate evidence)
SEC24D
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Cole-Carpenter syndrome 2, OMIM:616294
Tags
  • watchlist
Amber Amber List (moderate evidence)
SMARCC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Aqueductal stenosis
  • Septal agenesis
  • Corpus callosum abnormalities
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
TRIM71
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hydrocephalus, congenital communicating, 1, OMIM:618667
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
WNT3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • ?Tetra-amelia syndrome 1, OMIM:273395
Tags
Red Red List (low evidence)
ASXL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Shashi-Pena syndrome 617190
Tags
Red Red List (low evidence)
FMR1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • UKGTN
Phenotypes
  • Fragile X syndrome 300624
Tags
Red Red List (low evidence)
GMPPB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Tags
Red Red List (low evidence)
ISLR2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • hydrocephalus
  • arthrogryposis
  • abdominal distension
Tags
Red Red List (low evidence)
MMACHC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type
Tags
Red Red List (low evidence)
NANS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type
Tags
Red Red List (low evidence)
NMNAT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Research
Phenotypes
  • hydrops fetalis
  • cystic hygroma
  • bilateral hypoplastic lungs
  • hydrocephalus
  • hypoplastic cerebellum
  • severely reduced skeletal muscle mass or absence
  • flexion contractures of all extremities
  • micrognathia
  • cleft palate
  • hydropic placenta
Tags
Red Red List (low evidence)
NOTCH2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Hajdu-Cheney syndrome
Tags
Red Red List (low evidence)
NRAS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Neurocutaneous melanosis, somatic
Tags
Red Red List (low evidence)
OFD1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Orofaciodigital syndrome I
Tags
Red Red List (low evidence)
RNASEH2A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Aicardi-Goutieres syndrome 4
Tags
Red Red List (low evidence)
TBC1D7
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Tags
Red Red List (low evidence)
TBX15
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Cousin syndrome
Tags
Red Red List (low evidence)
TMEM216
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Joubert syndrome 2
Tags
Red Red List (low evidence)
TTR
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • adult-onset
  • treatable
Red Red List (low evidence)
WDR81
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • congenital hydrocephalus
Tags
  • watchlist
Red Red List (low evidence)
ZPR1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Tags
  • founder-effect
No list No list
TCIRG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 1, OMIM:259700
Tags
No list No list
TNFRSF11A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 7, OMIM:612301
Tags

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