Description
Hydrocephalus eligibility statement.

Inclusion criteria:
- An increase in the volume of cerebrospinal fluid (CSF) leading to ventriculomegaly, as visualised by cerebral imaging, without evidence of an acquired cause

Exclusion criteria:
- Evidence of a secondary cause for CSF accumulation including secondary to mass effect, haemorrhage or infective processes 

Prior testing guidance:
- Testing should be offered in accordance with local guidance, as appropriate to the participant’s phenotype
- Chromosome analysis should be considered prior to recruitment

6 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

  • 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

97 Entities

97 reviewed, 70 green

List Entity Reviews Mode of inheritance Details
97 Entitiess
Green Green List (high evidence)
B3GLCT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peters-plus syndrome 261540
Tags
Green Green List (high evidence)
LARGE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Tags
Green Green List (high evidence)
MYMK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome 254940
Tags
Green Green List (high evidence)
WASHC5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 1
Tags
Green Green List (high evidence)
AKT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
AP1S2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, X-linked syndromic 5
Tags
Green Green List (high evidence)
ARSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
  • Mucopolysaccharidosis, Type VI
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
Green Green List (high evidence)
BUB1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 257300
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 9 612285
Tags
Green Green List (high evidence)
CCDC88C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600
Tags
Green Green List (high evidence)
CCND2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
Green Green List (high evidence)
CENPF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Stromme syndrome 243605
Tags
Green Green List (high evidence)
CEP83
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 18 615862
Tags
Green Green List (high evidence)
COL4A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Porencephaly 1 175780
Tags
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
DAG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818
Tags
Green Green List (high evidence)
DENND5A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 49
Tags
Green Green List (high evidence)
DHCR24
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Desmosterolosis
Tags
Green Green List (high evidence)
EML1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, 600348
Tags
  • watchlist
Green Green List (high evidence)
ERF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis 4 600775
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Raine syndrome
Tags
Green Green List (high evidence)
FANCB
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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • VACTERL Association with Hydrocephalus
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • VACTERLX
  • Fanconi anemia, complementation group B 300514
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pfeiffer syndrome 101600
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Apert syndrome
  • Crouzon syndrome
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Achondroplasia 100800
  • Thanatophoric dysplasia 187600
  • Crouzon syndrome with acanthosis nigricans 612247
  • Muenke syndrome 602849
Tags
Green Green List (high evidence)
FKRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Tags
Green Green List (high evidence)
FKTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Tags
Green Green List (high evidence)
FLVCR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790
Tags
Green Green List (high evidence)
FMR1
1 review
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
  • UKGTN
Phenotypes
  • Fragile X syndrome 300624
Tags
Green Green List (high evidence)
GFAP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alexander disease 203450
Tags
Green Green List (high evidence)
GLI3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Greig cephalopolysyndactyly syndrome
Tags
Green Green List (high evidence)
GPSM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Chudley-McCullough syndrome
Tags
Green Green List (high evidence)
GUSB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis VII 253220
Tags
Green Green List (high evidence)
HYLS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydrolethalus syndrome 236680
Tags
Green Green List (high evidence)
IDS
1 review
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
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II 309900
Tags
Green Green List (high evidence)
ISPD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Tags
Green Green List (high evidence)
KIAA0586
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
Tags
Green Green List (high evidence)
KIAA1109
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Corpus callosum, partial agenesis of
  • CRASH syndrome
  • Hydrocephalus due to aqueductal stenosis 307000
  • Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000
  • Hydrocephalus with Hirschsprung disease 307000
  • MASA syndrome
  • X-linked Hydrocephalus with aqueductal stenosis
  • Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
  • HSAS
Tags
Green Green List (high evidence)
LAMB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 5
Tags
Green Green List (high evidence)
MAN2B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mannosidosis, alpha-, types I and II 248500
Tags
Green Green List (high evidence)
NF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1
Tags
Green Green List (high evidence)
NSD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sotos syndrome 1 117550
Tags
Green Green List (high evidence)
OSTM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 5 259720
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Tags
  • somatic
Green Green List (high evidence)
PIK3R2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Green Green List (high evidence)
PLG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Plasminogen deficiency, type I
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Tags
Green Green List (high evidence)
POMGNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Tags
Green Green List (high evidence)
POMK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Tags
Green Green List (high evidence)
POMT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Tags
Green Green List (high evidence)
POMT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
Tags
Green Green List (high evidence)
PPP2R5D
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 35
Tags
Green Green List (high evidence)
PTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basal cell nevus syndrome
Tags
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome
Tags
Green Green List (high evidence)
RNF125
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tenorio syndrome
Tags
Green Green List (high evidence)
RPS6KA3
1 review
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
Phenotypes
  • Coffin-Lowry syndrome
Tags
Green Green List (high evidence)
SKI
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shprintzen-Goldberg syndrome
Tags
Green Green List (high evidence)
SNX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 8
Tags
Green Green List (high evidence)
STRADA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Tags
Green Green List (high evidence)
SUFU
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basal cell nevus syndrome
Tags
Green Green List (high evidence)
SUMF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple sulfatase deficiency 272200
Tags
Green Green List (high evidence)
TCF12
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis 3 615314
Tags
Green Green List (high evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
Tags
  • new-gene-name
Green Green List (high evidence)
TWIST1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Saethre-Chotzen syndrome 101400
Tags
Green Green List (high evidence)
USP9X
1 review
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
Phenotypes
  • Mental retardation, X-linked 99 300919 XLR
  • Mental retardation, X-linked 99, syndromic, female-restricted 300968
Tags
Green Green List (high evidence)
ZBTB20
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primrose syndrome
Tags
Green Green List (high evidence)
ZIC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holoprosencephaly 5
Tags
Green Green List (high evidence)
ZIC3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • VACTERL association, X-linked
Tags
Amber Amber List (moderate evidence)
ARX
1 review
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
Phenotypes
  • Hydranencephaly with abnormal genitalia
Tags
  • watchlist
Amber Amber List (moderate evidence)
B3GNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
Tags
  • watchlist
Amber Amber List (moderate evidence)
CLIC2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Mental retardation, X-linked, syndromic 32
Tags
  • watchlist
Amber Amber List (moderate evidence)
EBP
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • MEND syndrome
Tags
  • watchlist
Amber Amber List (moderate evidence)
FLNA
1 review
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
Phenotypes
  • Otopalatodigital syndrome, type II
Tags
Amber Amber List (moderate evidence)
HDAC6
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Tags
  • watchlist
Amber Amber List (moderate evidence)
ICK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia 612651
Tags
  • watchlist
Amber Amber List (moderate evidence)
KIF7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Hydrolethalus syndrome 2 614120
Tags
  • watchlist
Amber Amber List (moderate evidence)
MPDZ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 615219
Tags
  • watchlist
Amber Amber List (moderate evidence)
MTM1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myotubular myopathy, X-linked
Tags
Amber Amber List (moderate evidence)
P4HB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cole-Carpenter syndrome 1
Tags
  • watchlist
Amber Amber List (moderate evidence)
PTCH2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Basal cell nevus syndrome
Tags
  • watchlist
Amber Amber List (moderate evidence)
SEC24D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cole-Carpenter syndrome 2
Tags
  • watchlist
Amber Amber List (moderate evidence)
TBC1D7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive
Tags
  • watchlist
Amber Amber List (moderate evidence)
WNT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tetra-amelia syndrome
Tags
Red Red List (low evidence)
ASXL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
Tags
Red Red List (low evidence)
GMPPB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Tags
Red Red List (low evidence)
MMACHC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type
Tags
Red Red List (low evidence)
NANS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type
Tags
Red Red List (low evidence)
NOTCH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hajdu-Cheney syndrome
Tags
Red Red List (low evidence)
NRAS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurocutaneous melanosis, somatic
Tags
Red Red List (low evidence)
OFD1
1 review
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
Phenotypes
  • Orofaciodigital syndrome I
Tags
Red Red List (low evidence)
RNASEH2A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 4
Tags
Red Red List (low evidence)
TBX15
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cousin syndrome
Tags
Red Red List (low evidence)
TMEM216
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Joubert syndrome 2
Tags
Red Red List (low evidence)
TTR
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • adult-onset
Red Red List (low evidence)
WDR81
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital hydrocephalus
Tags
  • watchlist

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