Glaucoma (developmental)
Gene: WDR36
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
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
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.
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for WDR36 were set to 15677485;17353431; 18172102
Publications for WDR36 were set to 17353431;18172102
Phenotypes for WDR36 were set to Glaucoma 1, open angle, G 609887
Model of inheritance for gene WDR36 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene WDR36 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
WDR36 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
WDR36 was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services