Bilateral congenital or childhood onset cataracts (Version 4.12)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R31 Bilateral congenital or childhood onset cataracts' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R31 Bilateral congenital or childhood onset cataracts'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

18 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

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

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Group: GeCIP domain
Workplace: NHS clinical service
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

201 Entities

201 reviewed, 115 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 201 Entitiess
Green Green List (high evidence)	ABHD12	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674 PHARC syndrome, MONDO:0012984 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 Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 Tags
Green Green List (high evidence)	ANAPC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Tags
Green Green List (high evidence)	ATAD3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Harel-Yoon syndrome, OMIM:617183 Tags
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)	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)	CDK9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Abnormality of vision Congenital cataract Iris coloboma Abnormal heart morphology Choanal atresia Abnormality of the ear Preauricular skin tag Hearing impairment Abnormality of the genitourinary system Abnormality of limbs Abnormality of the vertebrae Abnormality of nervous system morphology Seizures Tags gene-checked
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)	COG4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Tags
Green Green List (high evidence)	COL11A1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Marshall Syndrome, OMIM:154780 Stickler syndrome, type II, OMIM:604841 Tags
Green Green List (high evidence)	COL18A1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Knobloch syndrome, type 1, OMIM:267750 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 Cataract 16, multiple types, OMIM:613763 Myopathy, myofibrillar, 2, OMIM:608810 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 Cataract 22, OMIM: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, 213700 Tags
Green Green List (high evidence)	CYP51A1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autosomal recessive cataract due to abnormal sterol metabolism Tags gene-checked
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)	DNMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cataract 48, 618415 Tags
Green Green List (high evidence)	EIF2B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EPHA2	3 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 6, multiple types, OMIM:116600 Tags Q4_23_MOI
Green Green List (high evidence)	ERCC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 list Expert Review Green 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	3 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 new-gene-name
Green Green List (high evidence)	FAR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
Green Green List (high evidence)	FOXE3	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cataract 34, multiple types, OMIM:612968 cataract 34 multiple types, MONDO:0013067 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)	GFER	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 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)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichothiodystrophy 3, photosensitive, 616395 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 Cataract 5, multiple types, OMIM: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	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)	INTS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 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)	LCAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Fish-eye disease 136120 Norum disease 245900 Tags
Green Green List (high evidence)	LIM2	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cataract 19, multiple types, OMIM:615277 Tags Q2_24_MOI recurrent-variant
Green Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CODAS syndrome, 600373 Tags
Green Green List (high evidence)	LSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cataract 44, 616509 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)	MED27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Axial hypotonia Spasticity Dystonia Cerebellar hypoplasia Cataracts Epilepsy 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, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 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)	NACC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306 Tags
Green Green List (high evidence)	NDP	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green 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)	NUP188	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sandestig-Stefanova syndrome, 618804 Tags
Green Green List (high evidence)	OCRL	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Lowe syndrome, OMIM:309000 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 list Expert Review Green Phenotypes Peroxisome biogenesis disorder Tags
Green Green List (high evidence)	PEX11B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Heimler syndrome 2, OMIM:616617 Tags
Green Green List (high evidence)	PEX7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Peroxisome biogenesis disorder 9B, OMIM:614879 Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100 Tags
Green Green List (high evidence)	PIK3C2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145 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)	PLOD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394 Tags
Green Green List (high evidence)	POLG	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes POLG-related disorders 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 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 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, 248800 Tags
Green Green List (high evidence)	SLC16A12	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cataract 47, juvenile, with microcornea, OMIM:612018 juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786 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)	SREBF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017 Tags
Green Green List (high evidence)	TDRD7	3 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 list Expert Review Green 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)	VPS4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CIMDAG syndrome Tags
Green Green List (high evidence)	VSX2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, cataracts and iris abnormalities Tags
Green Green List (high evidence)	WFS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Cataract 41, 116400 Tags
Green Green List (high evidence)	WRN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Werner syndrome Tags
Green Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spondyloocular syndrome, 605822 Tags
Green Green List (high evidence)	ZNF526	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 Tags
Amber Amber List (moderate evidence)	COPB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly Tags
Amber Amber List (moderate evidence)	CTDP1	4 reviews 1 red	Not set	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402 Tags founder-effect
Amber Amber List (moderate evidence)	DYRK1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal dominant 7, 614104 Tags
Amber Amber List (moderate evidence)	GALM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Galactosemia IV, 618881 Tags watchlist
Amber Amber List (moderate evidence)	GEMIN4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 Tags watchlist
Amber Amber List (moderate evidence)	GLS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	PANK4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Congenital posterior cataract Tags watchlist
Amber Amber List (moderate evidence)	PGRMC1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Isolated paediatric cataract cataract, MONDO:0005129 Tags watchlist
Amber Amber List (moderate evidence)	PSMC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness cataract Tags
Amber Amber List (moderate evidence)	RIC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes CATIFA syndrome 618761 Tags founder-effect watchlist
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
Amber Amber List (moderate evidence)	SMG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Microcephaly Short stature Facial dysmorphism Cataract Tags
Amber Amber List (moderate evidence)	TKFC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Red Red List (low evidence)	ADAMTSL4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Ectopia lentis, isolated, autosomal recessive Ectopia lentis et pupillae Tags
Red Red List (low evidence)	AKR1E2	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red Phenotypes glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract Tags
Red Red List (low evidence)	AP4B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes AP-4 deficiency syndrome and ocular anomalies 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	3 reviews 2 red	Not set	Sources Expert Review Red UKGTN Tags watchlist
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)	COL6A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Peters anomaly 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)	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)	EED	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510 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, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 Otofaciocervical syndrome, 166780 Tags
Red Red List (low evidence)	FBN1	3 reviews 2 green 1 red	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 list Expert Review Red 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)	GJA1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Oculodentodigital dysplasia, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Tags new-gene-name
Red Red List (low evidence)	KIAA1109	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Alkuraya-Kucinskas syndrome, 617822 Brain atrophy, Dandy Walker and Contractures Tags new-gene-name
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)	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	3 reviews 2 red	Not set	Sources Expert Review Red UKGTN Tags ensembl_ids_known_missing
Red Red List (low evidence)	MAN2A1	2 reviews 2 red	Unknown	Sources Expert list Expert Review Red 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 list Expert Review Red 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)	NSUN2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mental retardation, autosomal recessive 5, OMIM:611091 cataracts 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 list Expert Review Red Phenotypes Peroxisome biogenesis disorder Tags
Red Red List (low evidence)	PISD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Liberfarb syndrome, 618889 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 1, OMIM:109400 Tags
Red Red List (low evidence)	RECQL4	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400 Tags
Red Red List (low evidence)	RNLS	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Congenital cataract, autosomal recessive Tags
Red Red List (low evidence)	RNPC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Literature Phenotypes isolated growth hormone deficiency ?Growth hormone deficiency, isolated, type V, 618160 congenital cataracts 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)	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)	TAF1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital cataract and global developmental delay Tags
Red Red List (low evidence)	TAPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pediatric posterior lenticonus cataract Tags
Red Red List (low evidence)	TCF4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes paediatric cataracts Tags STR
Red Red List (low evidence)	TMEM114	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red 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 list Expert Review Red Phenotypes Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Tags
Red Red List (low evidence)	UBE2U	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Retinoschisis, MONDO:0004579 cataracts learning disability, MONDO:0004681 developmental delay Tags

Major version comments

2023-03-22 16:02 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:53 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-10-02 14:52 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.36) was signed off under NHS Genomic Medicine Service governance on (02/10/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

27th June 2016: Gene panel was revised due to expert review and internally evalation, and promoted to version 1.

Bilateral congenital or childhood onset cataracts (Version 4.12)

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