Structural eye disease
Gene: WDR37
Reis et al. 2019 de novo missense variants in four unrelated families with Peter's anomaly, coloboma or microcornea. Hay et al. 2020 de novo missense variants in three unrelated families with syndromic coloboma.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Reis et al. 2019 de novo missense variants in four unrelated families with Peter's anomaly, coloboma or microcornea. Hay et al. 2020 de novo missense variants in three unrelated families with syndromic coloboma.Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurooculocardiogenitourinary syndrome, MIM:618652
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
Comment on list classification: Promoted from Red to Amber. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 20 Jan 2021, 10:50 a.m. | Last Modified: 20 Jan 2021, 10:50 a.m.
Panel Version: 1.40
Comment on mode of inheritance: MOI changed from "BIALLELIC, autosomal or pseudoautosomal" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown".Created: 20 Jan 2021, 10:49 a.m. | Last Modified: 20 Jan 2021, 10:49 a.m.
Panel Version: 1.39
Comment on list classification: New gene submitted by reviewer. I have made this gene a Red gene as the current panel has already been finalised. This gene can be considered for a new gene rating in the next review iteration.Created: 19 Nov 2019, 11:22 a.m. | Last Modified: 19 Nov 2019, 11:22 a.m.
Panel Version: 0.98
Features of WDR37 syndrome include the following: ocular anomalies such as corneal opacity/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; significant neurological impairment with structural brain defects and seizures; poor feeding; poor post-natal growth; variable skeletal, cardiac, and genitourinary defects.
The probands in one paper exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia
Sources: OtherCreated: 12 Nov 2019, 12:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
corneal opacity; Peters anomaly; coloboma; microcornea
Publications
Tag gene-checked tag was added to gene: WDR37.
Tag for-review was removed from gene: WDR37. Tag Q1_22_NHS_review was removed from gene: WDR37.
Source Expert Review Green was added to WDR37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: WDR37.
Gene: wdr37 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: WDR37.
Mode of inheritance for gene: WDR37 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR37 were changed from corneal opacity; Peters anomaly; coloboma; microcornea to corneal opacity; Peters anomaly; coloboma; microcornea; Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850
Gene: wdr37 has been classified as Red List (Low Evidence).
Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508
gene: WDR37 was added gene: WDR37 was added to Structural eye disease. Sources: Other Mode of inheritance for gene: WDR37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508 Phenotypes for gene: WDR37 were set to corneal opacity; Peters anomaly; coloboma; microcornea Penetrance for gene: WDR37 were set to unknown Review for gene: WDR37 was set to AMBER