Description
Ocular coloboma inclusion criteria (29645)
- Ocular coloboma taken to represent failure of the optic fissure to close with a wide spectrum of clinical severity as a consequence of variation in the site and extent of the closure defect.  
- Unilateral or bilaterally affected individuals.

Ocular coloboma exclusion criteria (29645)

Prior genetic testing guidance (29645)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29645)
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

  • Maria Bitner-Glindzicz (UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • David FitzPatrick (University of Edinburgh)

    Group: GeCIP domain
    Workplace: Research lab

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

63 Entities

62 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
63 Entitiess
Green Green List (high evidence)
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37393-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome
  • 115470
Tags
Green Green List (high evidence)
ACTB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
ACTG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Baraitser-Winter syndrome 2, 614583
Tags
Green Green List (high evidence)
ALDH1A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 8 615113
Tags
Green Green List (high evidence)
B3GALT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peters-plus syndrome, 261540
Tags
Green Green List (high evidence)
BMP4
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, syndromic 6, 607932
Tags
Green Green List (high evidence)
C12orf57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Temtamy syndrome, 218340
Tags
Green Green List (high evidence)
CC2D2A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • COACH syndrome, 216360
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CHARGE syndrome, 214800
Tags
Green Green List (high evidence)
CLDN19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190
Tags
Green Green List (high evidence)
FOXE3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anterior segment mesenchymal dysgenesis 107250
Tags
Green Green List (high evidence)
HCCS
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
Green Green List (high evidence)
MAB21L2
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia, syndromic 14 615877
Tags
Green Green List (high evidence)
OTX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 5, 610125
Tags
Green Green List (high evidence)
PAX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Papillorenal syndrome 120330
Tags
Green Green List (high evidence)
PAX6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229
Tags
Green Green List (high evidence)
PORCN
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Focal dermal hypoplasia 305600
Tags
Green Green List (high evidence)
PUF60
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
  • ocular abnormalities
Tags
  • microdeletion
Green Green List (high evidence)
RARB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 12 615524
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • COACH syndrome, 216360
Tags
Green Green List (high evidence)
SALL4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Duane-radial ray syndrome, 607323
Tags
Green Green List (high evidence)
SMO
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
SOX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, syndromic 3 206900
Tags
Green Green List (high evidence)
STRA6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
Tags
Green Green List (high evidence)
VSX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with coloboma 3, 610092
Tags
Green Green List (high evidence)
YAP1
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, ocular, 120433
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
  • isolated ocular coloboma
Tags
Amber Amber List (moderate evidence)
HMX1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculoauricular syndrome 612109
Tags
Amber Amber List (moderate evidence)
IGBP1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Tags
Amber Amber List (moderate evidence)
LRP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Donnai-Barrow syndrome, 222448
Tags
Amber Amber List (moderate evidence)
MAF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 21, multiple types 610202
Tags
Amber Amber List (moderate evidence)
PIGL
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
  • CHIME syndrome, 280000
Tags
Amber Amber List (moderate evidence)
RBP4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Tags
Amber Amber List (moderate evidence)
SIX6
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, 212550
Tags
Red Red List (low evidence)
ABCB6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402
Tags
Red Red List (low evidence)
AHI1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome-3
Tags
Red Red List (low evidence)
ARL13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 8
Tags
Red Red List (low evidence)
BMP7
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Tags
Red Red List (low evidence)
C5orf42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
Tags
  • new-gene-name
Red Red List (low evidence)
CEP290
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 5
Tags
Red Red List (low evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
GDF3
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 3, autosomal dominant, 613702
Tags
Red Red List (low evidence)
GDF6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
Tags
Red Red List (low evidence)
HMGB3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Microphthalmia, syndromic 13, 300915
Tags
Red Red List (low evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
KIF7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Acrocallosal syndrome
Tags
Red Red List (low evidence)
MIR204
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract 616722
Tags
  • locus-type-rna-micro
Red Red List (low evidence)
NAA10
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Microphthalmia, syndromic 1, 309800
Tags
Red Red List (low evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome, Nephronophthisis
Tags
Red Red List (low evidence)
OFD1
2 reviews
1 green
Other - please specifiy in evaluation comments
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • X-linked Joubert syndrome
  • Oral-facial-digital syndrome I
Tags
Red Red List (low evidence)
SALL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Coloboma, ocular, autosomal recessive 216820
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
Tags
Red Red List (low evidence)
SIX3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Phenotypes
  • Holoprosencephaly 2 157170
Tags
Red Red List (low evidence)
SPINT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
  • optic nerve coloboma
  • congenital sodium diarrhea with additional features
Tags
Red Red List (low evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Tags
Red Red List (low evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
Tags
Red Red List (low evidence)
TENM3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated, with coloboma 9, 615145
Tags
Red Red List (low evidence)
TFAP2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Branchiooculofacial syndrome , 113620
Tags
Red Red List (low evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Tags
Red Red List (low evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome
  • Meckel-Gruber syndrome
Tags
Red Red List (low evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TMEM67
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • COACH syndrome, 216360
  • Joubert syndrome 6
Tags

Major version comments

Downloads

Download lists

Download Version