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.

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
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
5 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
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
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
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
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
Phenotypes
  • Eye Disorders
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
Not set
Sources
  • Emory Genetics Laboratory
  • NHS GMS
Phenotypes
  • Eye Disorders
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} 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 137760
  • {Glaucoma, normal tension, susceptibility to} 606657
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

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