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  2. Structural eye disease
  3. WDR36
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Structural eye disease

Gene: WDR36

Red List (low evidence)
WDR36 (WD repeat domain 36)
EnsemblGeneIds (GRCh38): ENSG00000134987
EnsemblGeneIds (GRCh37): ENSG00000134987
OMIM: 609669, Gene2Phenotype
WDR36 is in 2 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

glaucoma gene, can't find any evidence that it is associated with structural eye disease. Pasutto: glaucoma has adult onset in all cases
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, G; 609887

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). glaucoma gene, can't find any evidence that it is associated with structural eye disease. Pasutto: glaucoma has adult onset in all cases
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, G, 609887

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Glaucoma 1, open angle, G 609887
OMIM
609669
Clinvar variants
Variants in WDR36
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WDR36 were changed from Glaucoma 1, open angle, G 609887; Glaucoma 1, open angle, G, 609887 to Glaucoma 1, open angle, G 609887

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WDR36. Mode of inheritance for gene WDR36 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glaucoma 1, open angle, G, 609887 for gene: WDR36

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: WDR36 was added gene: WDR36 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR36 were set to 17353431; 18172102; 15677485 Phenotypes for gene: WDR36 were set to Glaucoma 1, open angle, G 609887