| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v1.122 | WDR37 | Eleanor Williams Tag gene-checked tag was added to gene: WDR37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | WDR37 |
Ivone Leong Tag for-review was removed from gene: WDR37. Tag Q1_22_NHS_review was removed from gene: WDR37. |
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| Structural eye disease v1.113 | WDR37 | Ivone Leong commented on gene: WDR37: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | WDR37 |
Ivone Leong Source Expert Review Green was added to WDR37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.108 | WDR37 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: WDR37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | WDR37 | Nicola Ragge edited their review of gene: WDR37: Added comment: 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.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.40 | WDR37 | Ivone Leong Classified gene: WDR37 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.40 | WDR37 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.40 | WDR37 | Ivone Leong Gene: wdr37 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.39 | WDR37 | Ivone Leong Tag for-review tag was added to gene: WDR37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.39 | WDR37 | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BIALLELIC, autosomal or pseudoautosomal" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.39 | WDR37 | Ivone Leong Mode of inheritance for gene: WDR37 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.38 | WDR37 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | WDR37 | Nicola Ragge reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327510, 32530092; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.98 | WDR37 | Ivone Leong Classified gene: WDR37 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.98 | WDR37 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.98 | WDR37 | Ivone Leong Gene: wdr37 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.97 | WDR37 | Ivone Leong Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.95 | WDR37 |
Zerin Hyder 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 Added comment: 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: Other |
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