Glaucoma (developmental) (Version 1.45)

Description

Glaucoma inclusion criteria (29590)
- Diagnosis of developmental glaucoma confirmed (preferably) by an ophthalmologist with a sub-specialist expertise in childhood glaucoma 
- Availability of relevant phenotypic information including:
  - structural assessment of anterior segment
  - optic nerve head characteristics
  - intraocular pressure at first presentation
  - highest ever recorded IOP, where available
  - slit lamp assessment of anterior segment
  - pachymetry
  - ERG and VEP (if appropriate)
- Availability of non-ocular phenotypic information if appropriate:
  - Presence/absence of maxillary hypoplasia
  - umbilical anomaly
  - cardiac anomalies (from history)
  - growth delay 
  - dental anomalies
  - metabolic disease (from history)

Glaucoma exclusion criteria (29590)
- Features of adult-onset glaucoma 
- Suggestion of secondary (acquired) glaucoma, i.e. following trauma, intraocular neoplasm, uveitis, lens-related (subluxation, spherophakia, phacolytic), following lensectomy, drug-induced (corticosteroids), secondary to rubeosis, angle closure, associated with increased venous pressure, or following intraocular infection.

Prior genetic testing guidance (29590)
- 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.

Glaucoma prior genetic testing genes (29590)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - MYOC in cases of juvenile open angle glaucoma
  - CYP1B1 in cases of primary congenital glaucoma
  - PAX6 in cases of aniridia

Closing statement (29590)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

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

Group: Other
Workplace: Other
Chris Campbell (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Owen Siggs (Flinders University)

Group: Other
Workplace: Research lab
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
Mariya Moosajee (Moorfields Eye Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
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

232 Entities

232 reviewed, 18 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 232 Entitiess
Green Green List (high evidence)	ADAMTS10	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GDL Glaucoma panel NHS GMS Phenotypes Weill-Marchesani syndrome 1, recessive Tags
Green Green List (high evidence)	ADAMTS17	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GDL Glaucoma panel NHS GMS Phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) Tags
Green Green List (high evidence)	CPAMD8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glaucoma anterior segment dysgenesis 8, 617319 retinal detachment cataract Tags
Green Green List (high evidence)	CREBBP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Rubinstein-Taybi syndrome 1, OMIM:180849 Tags
Green Green List (high evidence)	CYP1B1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 231300 Peters anomaly, 604229 Primary Congenital Glaucoma Glaucoma 3, Primary Congenital, A GLC3A primary congenital glaucoma Tags
Green Green List (high evidence)	DDX58	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green GDL Glaucoma panel NHS GMS Phenotypes Singleton-Merten syndrome 2, OMIM:616298 Singleton-Merten syndrome 2, MONDO:0014575 Tags new-gene-name
Green Green List (high evidence)	FOXC1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Axenfeld-Rieger syndrome, type 3 602482 Anterior segment dysgenesis 3, multiple subtypes 601631 Tags
Green Green List (high evidence)	FOXE3	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Anterior segment dysgenesis 2, multiple subtypes 610256 Tags
Green Green List (high evidence)	IFIH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Singleton-Merten syndrome 1, OMIM:182250 Tags
Green Green List (high evidence)	LMX1B	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Nail-patella syndrome, OMIM:161200 Tags
Green Green List (high evidence)	LTBP2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Primary Congenital Glaucoma Glaucoma 3, primary congenital, D 613086 Tags
Green Green List (high evidence)	MYOC	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glaucoma 1A, primary open angle, 137750 Tags
Green Green List (high evidence)	OCRL	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Phenotypes Lowe syndrome, OMIM:309000 Tags
Green Green List (high evidence)	PAX6	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders aniridia Tags
Green Green List (high evidence)	PITX2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Anterior segment dysgenesis 4 137600 Axenfeld-Rieger syndrome, type 1 180500 Tags
Green Green List (high evidence)	SBF2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GDL Glaucoma panel NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4B2, OMIM:604563 CMT with early onset glaucoma Tags
Green Green List (high evidence)	SH3PXD2B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Frank-ter Haar syndrome, OMIM:249420 Tags
Green Green List (high evidence)	TEK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Glaucoma 3, primary congenital, E, OMIM:617272 Tags
Amber Amber List (moderate evidence)	FOXD3	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber GDL Glaucoma panel NHS GMS Phenotypes Anterior segment dysgenesis Peters anomaly aniridia Tags
Amber Amber List (moderate evidence)	GJA1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green GDL Glaucoma panel NHS GMS Phenotypes Oculodentodigital dysplasia, OMIM:164200 Tags
Red Red List (low evidence)	ABCA4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ABHD12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ADAM9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ADGRV1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	AHI1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	AIPL1	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ALMS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ARL13B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ARL6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ASB10	2 reviews 2 red	Not set	Sources NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Glaucoma 1, open angle, F, 603383 Tags
Red Red List (low evidence)	ATOH7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red GDL Glaucoma panel NHS GMS Phenotypes AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment Tags
Red Red List (low evidence)	ATP13A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	B3GLCT	3 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS10	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBS9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BCOR	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BEST1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BMP4	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	C1QTNF5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	C2orf71	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags new-gene-name
Red Red List (low evidence)	C5orf42	4 reviews 1 green 2 red	Not set	Sources Emory Genetics Laboratory London North GLH NHS GMS Phenotypes Eye Disorders Tags new-gene-name
Red Red List (low evidence)	C8orf37	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags new-gene-name
Red Red List (low evidence)	CA4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CABP4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CACNA1F	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CACNA2D4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CC2D2A	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CDH23	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CDH3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CDHR1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CEP290	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CEP41	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CERKL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CHM	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CIB2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CLN3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CLN5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CLN6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CLN8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CLRN1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CNGA1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory NHS GMS Phenotypes Retinitis pigmentosa 49, OMIM:613756 Tags
Red Red List (low evidence)	CNGA3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CNGB1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CNGB3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CNNM4	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL11A1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL11A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL2A1	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL4A1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL9A1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL9A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CRB1	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CRX	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CTSD	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CYP27A1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CYP4V2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	DHDDS	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory NHS GMS Phenotypes Retinitis pigmentosa 59, OMIM:613861 Tags
Red Red List (low evidence)	EFEMP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ELOVL4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	EYS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FAM161A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FLVCR1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FRAS1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FREM1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FREM2	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FSCN2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FZD4	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GNAT1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GNAT2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GPR143	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GPR179	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GRIP1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GRM6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GRN	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GUCA1A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GUCA1B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	GUCY2D	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	HARS	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags new-gene-name
Red Red List (low evidence)	HCCS	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	IDH3B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	IMPDH1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	IMPG2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	INVS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	IQCB1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KCNJ13	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KCNV2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KCTD7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KIF7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KLHL7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LCA5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRAT	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRIT3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRMDA	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRP5	3 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LZTFL1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MAK	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MERTK	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MFN2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MFRP	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MFSD8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MKKS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MKS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MTTP	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	MYO7A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NDP	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NPHP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NPHP3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NPHP4	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NR2E3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NRL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NTF4	2 reviews 2 red	Not set	Sources NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Glaucoma 1, open angle, 1O, 613100 Tags
Red Red List (low evidence)	NYX	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OAT	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OCA2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OFD1	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OPA1	4 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen Phenotypes {Glaucoma, normal tension, susceptibility to}, OMIM:606657 Tags
Red Red List (low evidence)	OPA3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OPTN	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Glaucoma 1, open angle, E, OMIM:137760 {Glaucoma, normal tension, susceptibility to}, OMIM:606657 Adult-onset Tags
Red Red List (low evidence)	OTX2	3 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PCDH15	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDE6A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDE6B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDE6C	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDE6G	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDE6H	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PDZD7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PEX7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PHYH	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PITPNM3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PITX3	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PLA2G5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PPT1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRCD	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PROM1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRPF3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRPF31	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRPF6	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRPF8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PRPH2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RAX2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RBP3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RBP4	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RD3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RDH12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RDH5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RGR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RGS9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RGS9BP	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RHO	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RIMS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RLBP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ROM1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RP2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RP9	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RPE65	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RPGR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RPGRIP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RPGRIP1L	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	RS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SAG	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SDCCAG8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SEMA4A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SLC24A1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SLC24A5	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SLC45A2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SMOC1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SNRNP200	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SOX2	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SPATA13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Primary Angle Closure Glaucoma Tags adult-onset
Red Red List (low evidence)	SPATA7	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	STRA6	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN2	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TIMM8A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TIMP3	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TMEM126A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TMEM216	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TMEM237	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TMEM67	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TOPORS	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TP53BP2	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature NHS GMS Phenotypes Primary Open Angle Glaucoma Tags
Red Red List (low evidence)	TPP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TRIM32	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TRPM1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TSPAN12	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TTC21B	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TTC8	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TULP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TYR	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TYRP1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	UNC119	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	USH1C	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	USH1G	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	USH2A	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	VAX1	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	VCAN	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	VSX2	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WDPCP	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WDR36	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Glaucoma 1, open angle, G 609887 Tags
Red Red List (low evidence)	WFS1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WHRN	3 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WT1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ZNF423	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ZNF513	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory NHS GMS Phenotypes Eye Disorders Tags

Major version comments

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

Glaucoma (developmental) (Version 1.45)

11 reviewers

232 Entities

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