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.

5 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

224 genes

22 reviewed, 9 green

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

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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