Description
Cataracts (11112.3)

Cataracts Eligibility (29594.1)

Cataracts Inclusion Criteria
- Bilaterally affected individuals 
- Isolated or complex

Cataracts Exclusion Criteria

Prior Genetic Testing (Concise without UKGTN test)
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype.

These requirements will be kept under continual review during the main programme and may be subject to change.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Waller (Manchester Centre for Genomic Medicine)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Owen Siggs (Flinders University)

    Group: Other
    Workplace: Research lab

157 Entities

157 reviewed, 90 green

List Entity Reviews Mode of inheritance Details
157 Entitiess
Green Green List (high evidence)
B3GLCT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peters-plus syndrome
Tags
Green Green List (high evidence)
ADAMTS10
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Weill-Marchesani syndrome
Tags
Green Green List (high evidence)
AGK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Cataract
  • Sengers syndrome, 212350
Tags
Green Green List (high evidence)
AGPS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 3
  • rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Tags
Green Green List (high evidence)
ALDH18A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Autosomal dominant cutis laxa-3 (ADCL3)
  • autosomal recessive cutis laxa type III (ARCL3)
Tags
Green Green List (high evidence)
BCOR
2 reviews
2 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
  • UKGTN
Phenotypes
  • Microphthalmia syndromic 2
  • Microphthalmia syndromic type 2
  • syndromic microphthalmia-2, 300166
Tags
Green Green List (high evidence)
BFSP1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 33, 611391
Tags
Green Green List (high evidence)
BFSP2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataracts
  • Cataract 12, multiple types, 611597
Tags
Green Green List (high evidence)
CHMP4B
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 31, multiple types, 605387
Tags
Green Green List (high evidence)
COL11A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Marshall Syndrome
  • Stickler syndrome
Tags
Green Green List (high evidence)
COL18A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Knobloch syndrome
  • high myopia
  • cataracts
  • vitreoretinal degeneration
  • retinal detachment
Tags
Green Green List (high evidence)
COL2A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for Stickler syndrome type I non-syndromic ocular
  • Stickler syndrome
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Brain small vessel disease with or without ocular anomalies
  • complex ocular phenotypes involving microphthalmia
  • Congenital cataracts
Tags
Green Green List (high evidence)
CRYAA
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Cataract
  • Cataract 9, multiple types, 604219
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
Tags
Green Green List (high evidence)
CRYAB
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, myofibrillar, 2, 608810
  • Posterior Polar Cataract
Tags
Green Green List (high evidence)
CRYBA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 10, multiple types, 600881
  • cataract congenital zonular with sutural opacities
  • Cataract 10, multiple types
Tags
Green Green List (high evidence)
CRYBA4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 23, 610425
Tags
Green Green List (high evidence)
CRYBB1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Nuclear Cataract
  • Cataract 17, multiple types, 611544
Tags
Green Green List (high evidence)
CRYBB2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 3, multiple types, 601547
  • cataract, coppock-like and cataract
  • congenital cerulean type 2
  • Cataract 3, multiple types
Tags
Green Green List (high evidence)
CRYBB3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Nuclear Cataract
  • Cataract 22, autosomal recessive, 609741
Tags
Green Green List (high evidence)
CRYGC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 2, multiple types, 604307
  • cataract autosomal dominant
  • cataract coppock-like
  • Cataract 2, multiple types
Tags
Green Green List (high evidence)
CRYGD
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataracts
  • Cataract 4, multiple types, 115700
  • CATARACT CONGENITAL CERULEAN TYPE 3
  • CATARACT AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
CRYGS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 20, multiple types, 116100
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cerebrotendinous xanthomatosis
Tags
Green Green List (high evidence)
CYP51A1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal recessive cataract due to abnormal sterol metabolism
Tags
Green Green List (high evidence)
DHCR7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome
Tags
Green Green List (high evidence)
EED
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen-Gibson syndrome 617561
Tags
Green Green List (high evidence)
EPHA2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Age-Related Cortical Cataract
  • Cataract 6, multiple types, 116600
Tags
Green Green List (high evidence)
ERCC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2
  • Trichothiodystrophy
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Tags
Green Green List (high evidence)
ERCC3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichothiodystrophy
Tags
Green Green List (high evidence)
ERCC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cockayne syndrome type B
  • UV-sensitivesyndrome 1
  • Cerebrooculofacioskeletalsyndrome 1
Tags
Green Green List (high evidence)
ERCC8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cockayne syndrome type A MIMID
  • UV-sensitive syndrome 2
  • confirmed DD gene for Cockayne Syndrome Type A
Tags
Green Green List (high evidence)
FAM126A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypomyelination and Congenital Cataract
  • Leukodystrophy hypomyelinating 5
  • Leukodystrophy hypomyelinating type 5
Tags
Green Green List (high evidence)
FOXE3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Autosomal dominant cataracts
  • Peter's anomaly, microphthalmia.
Tags
Green Green List (high evidence)
FTL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperferritinemia-cataract syndrome, 600886
  • Hyperferritinemia Cataract Syndrome
  • HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Tags
Green Green List (high evidence)
FYCO1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Cataract
  • Cataract 18, autosomal recessive, 610019
  • Cataract 18, autosomal recessive
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Tags
Green Green List (high evidence)
GALK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
  • Galactokinase deficiency with cataracts
  • galactosemia II
Tags
Green Green List (high evidence)
GALT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for galactosemia
Tags
Green Green List (high evidence)
GCNT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Adult i Blood Group With or Without Congenital Cataract
  • [Blood group, Ii], 110800
Tags
Green Green List (high evidence)
GJA3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Zonular Pulverulent Cataract
  • Cataract 14, multiple types, 601885
  • CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
  • Cataract 14, multiple types
Tags
Green Green List (high evidence)
GJA8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract-Microcornea Syndrome
  • Cataract 1, multiple types, 116200
  • CATARACT-MICROCORNEA SYNDROME
  • CATARACT ZONULAR PULVERULENT TYPE 1
  • Cataract 1, multiple types
Tags
Green Green List (high evidence)
GNPAT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
  • rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Tags
Green Green List (high evidence)
HMX1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Oculoauricular syndrome
Tags
Green Green List (high evidence)
HSF4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataracts
  • Cataract 5, multiple types, 116800
  • CATARACT ZONULAR HSF4-RELATED
  • CATARACT MARNER TYPE
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Tags
Green Green List (high evidence)
JAM3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Tags
Green Green List (high evidence)
LIM2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cortical Pulverulent Cataract
  • Cataract 19, 615277
Tags
Green Green List (high evidence)
MAF
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract, pulverulent or cerulean, with or without microcornea, 610202
  • CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
  • CATARACT CONGENITAL CERULEAN TYPE 4
  • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM)
  • Ayme-Gripp syndrome
  • Cataract 21, multiple types
  • Cataract pulverulent or cerulean with or without microcornea
Tags
Green Green List (high evidence)
MAN2B1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mannosidosis alpha- types I and II
Tags
Green Green List (high evidence)
MIP
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataracts
  • Cataract 15, multiple types, 615274
Tags
Green Green List (high evidence)
MIR184
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • EDICT
Tags
  • locus-type-rna-micro
Green Green List (high evidence)
MSMO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Tags
Green Green List (high evidence)
MYH9
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epstein syndrome
  • Fechtner syndrome
Tags
Green Green List (high evidence)
NDP
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Norrie Disease
Tags
Green Green List (high evidence)
NF2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
NHS
2 reviews
2 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
  • UKGTN
Phenotypes
  • Nance-Horan syndrome, 302350
  • Nance-Horan syndrome MIMID, Cataract congenital X-linked
  • cataract congenital X-linked
  • Nance-Horan syndrome
  • Nance-Horan syndrome, 302350
  • X-linked cataracts
Tags
Green Green List (high evidence)
OCRL
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Lowe syndrome
  • Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Tags
Green Green List (high evidence)
OPA3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • autosomal dominant optic atrophy with cataract (ADOAC)
Tags
Green Green List (high evidence)
P3H2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Tags
Green Green List (high evidence)
PAX6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Morning glory disc anomaly, 120430
  • Aniridia, 106210
  • Cataract with late-onset corneal dystrohpy, 106210
  • Coloboma of optic nerve, 120430
  • Coloboma, ocular, 120200
  • Foveal hypoplasia 1, 136520
  • Gillespie syndrome, 206700
  • Keratitis, 148190
  • Optic nerve hypoplasia, 165550
  • Peters anomaly, 604229
  • Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization
  • Optic Nerve Malformations
  • Foveal Hypoplasia and Presenile Cataract Syndrome
Tags
Green Green List (high evidence)
PEX1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger)
  • Refsum disease infantile
  • Adrenoleukodystrophy neonatal
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX11B
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX12
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger)
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX13
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger)
  • Adrenoleukodystrophy neonatal
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX16
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger)
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 5A, (Zellweger)
  • Zellweger sydrome
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX26
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Adrenoleukodystrophy neonatal
  • Peroxisome biogenesis disorder 7A (Zellweger)
  • Refsum disease infantile
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger)
  • confirmed DD gene for Zellweger syndrome
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger)
  • Peroxisome biogenesis disorder 2B
  • Rhizomelic chondrodysplasia punctata, type 5
Tags
Green Green List (high evidence)
PEX6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger)
  • Confirmed DD gene for ZELLWEGER SYNDROME
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PEX7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 1
  • Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1
  • Refsum disease
  • Peroxisome biogenesis disorder
Tags
Green Green List (high evidence)
PITX3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anterior segment mesenchymal dysgenesis, 107250
  • Cataract posterior polar 4
  • Anterior segment mesenchymal dysgenesis
  • cataract autosomal dominant
  • cataract posterior polar type 4 (CTPP4)
  • Cataract 11, multiple types
  • Cataract 11, syndromic
Tags
Green Green List (high evidence)
PXDN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Congenital cataract, corneal opacity, developmental glaucoma
  • corneal opacification associated with other ocular anomalies (COPA)
Tags
Green Green List (high evidence)
RAB18
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Warburg micro syndrome 3
  • Warburg Micro syndrome-3
Tags
Green Green List (high evidence)
RAB3GAP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Warburg micro syndrome 1
  • Warburg Micro syndrome-1
Tags
Green Green List (high evidence)
RAB3GAP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Martsolf syndrome
  • Warburg micro syndrome 2
  • Warburg Micro syndrome-2
Tags
Green Green List (high evidence)
SC5D
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
SIL1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Marinesco-Sjogren syndrome
Tags
Green Green List (high evidence)
SLC2A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Tags
Green Green List (high evidence)
SLC33A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, 612539
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482
  • Congenital cataracts hearing loss and neurodegeneration
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Kahrizi syndrome.
Tags
Green Green List (high evidence)
TDRD7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Cataract
  • Cataract 36, 613887
Tags
Green Green List (high evidence)
TFAP2A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Branchiooculofacial syndrome
Tags
Green Green List (high evidence)
VIM
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 30, pulverulent, 116300
Tags
Green Green List (high evidence)
VSX2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, cataracts and iris abnormalities
Tags
Green Green List (high evidence)
WRN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Werner syndrome
Tags
Amber Amber List (moderate evidence)
SIPA1L3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Cataract 45
Tags
  • watchlist
Red Red List (low evidence)
ABHD12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
Tags
Red Red List (low evidence)
ADAMTSL4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ectopia lentis, isolated, autosomal recessive
  • Ectopia lentis et pupillae
Tags
Red Red List (low evidence)
AKR1E2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract
Tags
Red Red List (low evidence)
B3GALNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Tags
Red Red List (low evidence)
B4GAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
Tags
Red Red List (low evidence)
BEST1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) -dditional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber.
  • Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Tags
Red Red List (low evidence)
BUB1B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Mosaic variegated aneuploidy
Tags
Red Red List (low evidence)
CAPN15
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
CBS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Homocystinuria, AR
  • Homocystinuria B6-responsive and nonresponsive types
  • confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Tags
Red Red List (low evidence)
CDKN2A
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
CRYGA
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
CRYGB
2 reviews
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 39, multiple types, autosomal dominant, 615188
Tags
Red Red List (low evidence)
CRYGFP
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
  • locus-type-pseudogene
Red Red List (low evidence)
CTDP1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Tags
Red Red List (low evidence)
DAG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Tags
Red Red List (low evidence)
ESCO2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Vega et al (2010) J. Med. Genet. 47: 30-37
  • Roberts syndrome 238300
Tags
Red Red List (low evidence)
EYA1
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780
Tags
Red Red List (low evidence)
FBN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • congenital ectopia lentis
  • Marfan syndrome
  • Weill-Marchesani syndrome
Tags
Red Red List (low evidence)
FKRP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5
Tags
Red Red List (low evidence)
FKTN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4
Tags
Red Red List (low evidence)
FLNB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
FOXC1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Axenfeld-Rieger syndrome type 3
Tags
Red Red List (low evidence)
FOXD3
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Anterior segment dysgenesis, Peter’s anomaly
Tags
Red Red List (low evidence)
FZD4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
GFER
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Tags
Red Red List (low evidence)
GJA1
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Oculodentodigital Dysplasia
Tags
Red Red List (low evidence)
GJC3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
GJE1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
GMPPB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Tags
Red Red List (low evidence)
HCCS
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
  • UKGTN
Phenotypes
  • Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
Red Red List (low evidence)
ISPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Tags
Red Red List (low evidence)
LARGE1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6
Tags
Red Red List (low evidence)
LCAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Fish-eye disease 136120
  • Norum disease 245900
Tags
Red Red List (low evidence)
LCT
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Congenital lactase deficiency
Tags
Red Red List (low evidence)
LMX1B
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for Nail-patella syndrome
Tags
Red Red List (low evidence)
LRP5
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Osteoporosis-pseudoglioma syndrome
  • Exudative vitreoretinopathy 4
Tags
Red Red List (low evidence)
LTBP2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
LTBP3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Tags
Red Red List (low evidence)
MAFIP
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
MAN2A1
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA
Tags
Red Red List (low evidence)
MFSD6L
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuronal ceroid lipofucinosis
Tags
Red Red List (low evidence)
MIPEP
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
MMP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}
Tags
Red Red List (low evidence)
NECTIN3
3 reviews
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
OTX2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 5
Tags
Red Red List (low evidence)
PEX5L
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Red Red List (low evidence)
PITX2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cataracts
Tags
Red Red List (low evidence)
POMGNT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Tags
Red Red List (low evidence)
POMGNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Tags
Red Red List (low evidence)
POMK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Tags
Red Red List (low evidence)
POMT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
  • muscular dystrophy-dystroglycanopathy (MDDG)
Tags
Red Red List (low evidence)
POMT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A2
  • muscular dystrophy-dystroglycanopathy (MDDG)
Tags
Red Red List (low evidence)
PRX
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Congenital cataract
Tags
Red Red List (low evidence)
PTCH1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • BASAL CELL NEVUS SYNDROME
Tags
Red Red List (low evidence)
RECQL4
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Rothmund-Thomson syndrome, 268400
  • RAPADILINO syndrome, 266280
  • Baller-Gerold syndrome, 218600
  • Rothmund-Thomson syndrome
Tags
Red Red List (low evidence)
RNLS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital cataract, autosomal recessive
Tags
Red Red List (low evidence)
SEC23A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Craniolenticulosutural dysplasia
  • Cranio-lenticulo-sutural dysplasia
Tags
Red Red List (low evidence)
SIX3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Schizencephaly
Tags
Red Red List (low evidence)
SIX5
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Broanchiootorenal syndrome
Tags
Red Red List (low evidence)
SIX6
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia with cataract 2, 212550
Tags
Red Red List (low evidence)
SLC16A12
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract, juvenile, with microcornea and glucosuria, 612018
Tags
Red Red List (low evidence)
SOX2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
SREBF2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
TMEM114
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cataract and microphthalmia
Tags
Red Red List (low evidence)
TMEM5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
Tags
  • new-gene-name
Red Red List (low evidence)
TMEM70
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Tags

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