Glaucoma (developmental)
Gene: WDR36EnsemblGeneIds (GRCh38): ENSG00000134987
EnsemblGeneIds (GRCh37): ENSG00000134987
OMIM: 609669, Gene2Phenotype
WDR36 is in 2 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
glaucoma gene, can't find any evidence that it is associated with structural eye disease. Pasutto: glaucoma has adult onset in all casesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, G; 609887
Publications
Ivone Leong (Genomics England Curator)
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 casesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, G, 609887
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Seems to have been reclassification of variants in this gene previously deemed pathogenic, therefore the evidence is uncertain. It is not on the Manchester diagnostic lab gene panel.Created: 12 Apr 2017, 11:53 a.m.
Comment on publications: Two variants reported in PMID: 15677485 have now been reclassified due to findings in PMID: 17353431; 18172102 in controls.Created: 12 Apr 2017, 11:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Glaucoma 1, open angle, G 609887
- OMIM
- 609669
- Clinvar variants
- Variants in WDR36
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for WDR36 were set to 15677485;17353431; 18172102
Set publications
Ellen McDonagh (Genomics England Curator)Publications for WDR36 were set to 17353431;18172102
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for WDR36 were set to Glaucoma 1, open angle, G 609887
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene WDR36 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene WDR36 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)WDR36 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)WDR36 was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services