PanelApp (stage)
  1. Panels
  2. Cataract
Description
This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.
Panel Activity

20 reviewers

  • Lauren Akesson (Royal Melbourne Hospital)

  • Natalie Tan (Victorian Clinical Genetics Services)

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

199 Entities

147 reviewed, 123 green

List Entity Reviews Mode of inheritance Details
199 Entitiess
Green Green List (high evidence)
ABHD12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Tags
Green Green List (high evidence)
ADAMTS10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADAMTS17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Tags
Green Green List (high evidence)
AGK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sengers syndrome, MIM#212350
  • Cataract 38 MIM#614691
Tags
Green Green List (high evidence)
AGPS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ALDH18A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ANAPC1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM 618625
Tags
  • deep intronic
Green Green List (high evidence)
B3GLCT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BCOR
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 2, MIM# 300166
  • Oculofaciocardiodental syndrome
  • Lenz microphthalmia
Tags
Green Green List (high evidence)
BFSP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 33, multiple types, MIM# 611391
Tags
Green Green List (high evidence)
BFSP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 12, multiple types, MIM# 611597
Tags
Green Green List (high evidence)
CHMP4B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 31, multiple types MIM#605387
Tags
Green Green List (high evidence)
COG4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Saul-Wilson syndrome, OMIM #618150
  • Congenital disorder of glycosylation, type IIj, OMIM #613489
Tags
Green Green List (high evidence)
COL11A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL18A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL2A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL4A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CRYAA
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 9, multiple types, MIM# 604219
Tags
Green Green List (high evidence)
CRYAB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CRYBA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 10, multiple types, MIM# 600881
Tags
Green Green List (high evidence)
CRYBA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 23, MIM# 610425
Tags
Green Green List (high evidence)
CRYBB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 17, multiple types, MIM# 611544
Tags
Green Green List (high evidence)
CRYBB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 3, multiple types, MIM# 601547
Tags
Green Green List (high evidence)
CRYBB3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 22, MIM# 609741
Tags
Green Green List (high evidence)
CRYGC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 2, multiple types, MIM# 604307
Tags
Green Green List (high evidence)
CRYGD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 4, multiple types, MIM# 115700
Tags
Green Green List (high evidence)
CRYGS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 20, multiple types MIM#116100
Tags
Green Green List (high evidence)
CTDP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Tags
  • deep intronic
  • founder
Green Green List (high evidence)
CYP27A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYP51A1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital cataract
  • infantile liver disease
Tags
Green Green List (high evidence)
DHCR7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DNMBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • congenital cataract
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ij, MIM# 608093
  • DPAGT1-CDG MONDO:0011964
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • leukodystrophy
  • congenital cataracts
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
EPG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vici syndrome, MIM# 242840
Tags
Green Green List (high evidence)
EPHA2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 6, multiple types, MIM# 116600
Tags
Green Green List (high evidence)
ERCC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAM126A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAR1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan syndrome, MIM# 154700
  • Weill-Marchesani syndrome 2, dominant, MIM# 608328
Tags
Green Green List (high evidence)
FOSL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Tags
Green Green List (high evidence)
FOXE3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FTL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FYCO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 18, MIM#610019
Tags
Green Green List (high evidence)
GALK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
GALM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • galactosaemia
  • type IV galactosaemia
Tags
Green Green List (high evidence)
GALT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
GCNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 13 with adult i phenotype, OMIM # 116700
Tags
Green Green List (high evidence)
GEMIN4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Tags
Green Green List (high evidence)
GFER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076
Tags
Green Green List (high evidence)
GJA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GJA8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia
Tags
Green Green List (high evidence)
GNPAT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GTF2H5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy 3, photosensitive (MIM# 616395)
Tags
Green Green List (high evidence)
HMX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HSF4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 5, multiple types, 116800
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria type VIII (617248)
Tags
Green Green List (high evidence)
INPP5K
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
INTS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Tags
Green Green List (high evidence)
ISPD
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, 7 MIM#614643
Tags
Green Green List (high evidence)
JAM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Tags
Green Green List (high evidence)
LIM2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 19, multiple types, MIM# 615277
Tags
Green Green List (high evidence)
LONP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CODAS syndrome MIM# 600373
Tags
Green Green List (high evidence)
LSS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataract 44 MIM#616509
Tags
Green Green List (high evidence)
MAF
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAN2B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MED27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Tags
Green Green List (high evidence)
MIP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MIR184
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • EDICT syndrome, MIM# 614303
Tags
Green Green List (high evidence)
MSMO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
  • MONDO:0014793
Tags
Green Green List (high evidence)
MYH9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NACC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)
Tags
Green Green List (high evidence)
NDP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Norrie disease (MIM# 310600)
Tags
Green Green List (high evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 2 (MIM# 101000)
Tags
Green Green List (high evidence)
NHS
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Nance-Horan syndrome (MIM# 302350)
Tags
Green Green List (high evidence)
NUP188
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation
Tags
Green Green List (high evidence)
OAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Tags
Green Green List (high evidence)
OCRL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
OPA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
P3H2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Tags
Green Green List (high evidence)
PAX6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX11B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX14
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX26
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIK3C2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculoskeletodental syndrome, MIM# 618440
Tags
Green Green List (high evidence)
PISD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PITX3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PLOD3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cataract
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • POLG-related disorders
Tags
Green Green List (high evidence)
POMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PXDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Tags
Green Green List (high evidence)
RAB18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 3, MIM# 614222
Tags
  • founder
Green Green List (high evidence)
RAB3GAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
  • Martsolf syndrome 2, MIM# 619420
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 2, MIM# 614225
Tags
Green Green List (high evidence)
SC5D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lathosterolosis, MIM# 607330
Tags
Green Green List (high evidence)
SIL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marinesco-Sjogren syndrome (MIM#248800)
Tags
Green Green List (high evidence)
SLC16A12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 47, juvenile, with microcornea 612018
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC33A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SRD5A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SREBF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mucoepithelial dysplasia, hereditary, MIM#158310
Tags
Green Green List (high evidence)
TDRD7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 36 613887
  • glaucoma
  • nonobstructive azoospermia
  • arrested spermatogenesis
Tags
Green Green List (high evidence)
TFAP2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
VIM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
VSX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WFS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1, MIM# 222300
Tags
Green Green List (high evidence)
WRN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
XYLT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome, MIM# 605822
Tags
Green Green List (high evidence)
ZNF526
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Tags
Amber Amber List (moderate evidence)
ADD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3 617008
Tags
Amber Amber List (moderate evidence)
COL4A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cataract (MONDO:0005129), COL4A2-related
Tags
Amber Amber List (moderate evidence)
COL9A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Stickler syndrome, type IV, MIM#614134
Tags
Amber Amber List (moderate evidence)
COPB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Baralle-Macken syndrome, MIM# 619255
  • Severe intellectual disability
  • variable microcephaly
  • cataracts
Tags
Amber Amber List (moderate evidence)
DNA2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome, type 4, MIM# 620819
Tags
Amber Amber List (moderate evidence)
ESCO2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniofacial abnormalities
  • Developmental Delay
  • Corneal opacities
  • Growth retardation
  • Limb abnormalities
  • Roberts syndrome 238300
Tags
Amber Amber List (moderate evidence)
FKRP
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5
Tags
Amber Amber List (moderate evidence)
FKTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Limb Girdle Muscular Dystrophy with No Mental Retardation
  • Congenital Cataract
Tags
Amber Amber List (moderate evidence)
GLS
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Infantile cataracts
Tags
Amber Amber List (moderate evidence)
HPS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 1 (203300)
Tags
Amber Amber List (moderate evidence)
HPS4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 4 (614073)
Tags
Amber Amber List (moderate evidence)
HPS6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 6 (614075)
Tags
Amber Amber List (moderate evidence)
IKBKG
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Incontinentia pigmenti (308300)
  • / Ectodermal dysplasia and immunodeficiency 1 (300291)
  • Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301)
  • Immunodeficiency 33 (300636)
  • Immunodeficiency, isolated (300584)
  • Invasive pneumococcal disease, recurrent isolated 2 (300640)
Tags
Amber Amber List (moderate evidence)
ITPA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, MIM# 616647
Tags
Amber Amber List (moderate evidence)
LARGE1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)
Tags
Amber Amber List (moderate evidence)
LCAT
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
LEMD2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cataract 46, juvenile-onset, OMIM# 212500
Tags
  • founder
Amber Amber List (moderate evidence)
LMX1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nail-patella syndrome, MIM# 161200
Tags
Amber Amber List (moderate evidence)
PANK4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cataract 49, MIM# 619593
  • Congenital posterior cataract
Tags
Amber Amber List (moderate evidence)
PGRMC1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Isolated paediatric cataract
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
PIK3R1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880
Tags
Amber Amber List (moderate evidence)
POMT1
1 review
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PSMC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Tags
Amber Amber List (moderate evidence)
RIC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • CATIFA syndrome, MIM# 618761
Tags
Amber Amber List (moderate evidence)
SIPA1L3
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cataract 45 MIM#616851
Tags
Amber Amber List (moderate evidence)
TKFC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Developmental delay
  • cataracts
  • liver dysfunction
Tags
Amber Amber List (moderate evidence)
TMEM70
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Tags
Amber Amber List (moderate evidence)
TRPM3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cataract 50 with or without glaucoma, MIM#620253
Tags
Red Red List (low evidence)
ADA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency 102700
Tags
Red Red List (low evidence)
ADAM17
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory skin and bowel disease
Tags
Red Red List (low evidence)
ADAMTSL4
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ectopia lentis
  • cataract
Tags
Red Red List (low evidence)
AICDA
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2 605258
Tags
Red Red List (low evidence)
AKR1E2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cataract, MONDO:0005129, AKR1E2-related
Tags
Red Red List (low evidence)
ARL2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Tags
Red Red List (low evidence)
BTK
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked agammaglobulinemia
  • isolated growth hormone deficiency type III with agammaglobulinemia
Tags
Red Red List (low evidence)
CD3G
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 17, CD3 gamma deficient
Tags
Red Red List (low evidence)
CD40LG
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with Hyper-IgM type 1
Tags
Red Red List (low evidence)
COL9A2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Stickler syndrome, type V, MIM# 614284
Tags
Red Red List (low evidence)
CRYGA
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Tags
  • disputed
Red Red List (low evidence)
CYBA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease
Tags
Red Red List (low evidence)
CYBB
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease
  • immunodeficiency 34 with mycobacteriosis
Tags
Red Red List (low evidence)
DCLRE1C
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Omenn syndrome 603554
  • Severe combined immunodeficiency, Athabascan type 602450
Tags
Red Red List (low evidence)
DOCK8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IgE recurrent infection syndrome 243700
Tags
  • SV/CNV
Red Red List (low evidence)
DYRK1A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital cataracts
Tags
Red Red List (low evidence)
EED
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cohen-Gibson syndrome
Tags
Red Red List (low evidence)
EPCAM
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital diarrhoea 5 with tufting enteropathy
  • Lynch syndrome
Tags
Red Red List (low evidence)
FOXP3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Tags
Red Red List (low evidence)
GJA1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
Tags
Red Red List (low evidence)
GUCY2C
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhea 6, 614616
  • Meconium ileus, 614665
Tags
Red Red List (low evidence)
ICOS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Common variable immunodeficiency 1 (604558)
Tags
Red Red List (low evidence)
IL10
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
IL10RA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory bowel disease 28, early onset (613148)
Tags
Red Red List (low evidence)
IL10RB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory bowel disease 25, early onset (612567)
Tags
Red Red List (low evidence)
IL2RG
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, X-linked (300400)
  • Moderate combined immunodeficiency, X-linked (312863)
Tags
Red Red List (low evidence)
ITGB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency (MIM# 116920)
Tags
Red Red List (low evidence)
LIG4
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
LRBA
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NCF1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NCF2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NCF4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NSUN2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 5, MIM# 611091
  • Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Tags
Red Red List (low evidence)
PLCG2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
RAG2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
RET
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
RGS6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RGS6-related
Tags
Red Red List (low evidence)
RNH1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Tags
Red Red List (low evidence)
SH2D1A
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SKIV2L
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SLC37A4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
STXBP2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
TAPT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Tags
Red Red List (low evidence)
TTC37
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
UBE2U
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinoschisis
  • cataracts
  • learning disabilities
  • developmental delay
Tags
Red Red List (low evidence)
WAS
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
XIAP
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ZAP70
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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