Ocular coloboma (Version 1.47)

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.

Panel Activity

13 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: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

67 Entities

67 reviewed, 31 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 67 Entitiess
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)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green 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	2 reviews	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)	FZD5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microphthalmia/coloboma 11, OMIM:620731 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)	HMX1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculoauricular syndrome 612109 Tags
Green Green List (high evidence)	22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37393-Gain Region	1 review	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)	15q24 recurrent region (A-D) (includes SIN3A) Loss ISCA-37396-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 15q24 deletion syndrome, 613406 PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology developmental delay, severe speech problems PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Tags
Green Green List (high evidence)	LRP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Donnai-Barrow syndrome, 222448 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	2 reviews 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	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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)	TENM3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia, syndromic 15, OMIM:615145 ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 Microphthalmia, isolated, with coloboma 9, MONDO:0014059 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)	C16orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
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)	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	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	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
No list No list	B3GALT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Peters-plus syndrome, 261540 Tags curated_removed

Ocular coloboma (Version 1.47)

13 reviewers

67 Entities

67 reviewed, 31 green

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