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| Bilateral congenital or childhood onset cataracts v2.98 | GEMIN4 | Ivone Leong Tag for-review was removed from gene: GEMIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | GEMIN4 | Ivone Leong commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | GEMIN4 |
Ivone Leong Source Expert Review Amber was added to GEMIN4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Bilateral congenital or childhood onset cataracts v2.32 | GEMIN4 | Ivone Leong Tag watchlist tag was added to gene: GEMIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.32 | GEMIN4 | Ivone Leong Publications for gene: GEMIN4 were set to 27878435; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.31 | GEMIN4 | Ivone Leong edited their review of gene: GEMIN4: Added comment: On re-reviewing this gene, the mouse model was not a knockout gene model of GEMIN4. PMID: 30237576 is a new publication that describes another case with the same variant as that reported by PMID: 25558065. The affected individual is from the same region as the previous publication. Therefore, there is insufficient evidence to support a gene-disease status and this gene should be downgraded from Green to Amber at the next review.; Changed rating: AMBER; Changed publications: 30237576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.31 | GEMIN4 | Ivone Leong Tag for-review tag was added to gene: GEMIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | GEMIN4 | Zornitza Stark reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.34 | GEMIN4 | Ivone Leong Classified gene: GEMIN4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.34 | GEMIN4 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on previous review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.34 | GEMIN4 | Ivone Leong Gene: gemin4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | GEMIN4 | Ivone Leong reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27878435; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | GEMIN4 |
Ivone Leong gene: GEMIN4 was added gene: GEMIN4 was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 |
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