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Bilateral congenital or childhood onset cataracts v6.6 GEMIN4 Arina Puzriakova Tag watchlist was removed from gene: GEMIN4.
Tag Q3_24_promote_green was removed from gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v6.6 GEMIN4 Arina Puzriakova reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v6.5 GEMIN4 Arina Puzriakova Source NHS GMS was added to GEMIN4.
Source Expert Review Green was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Added comment: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v4.16 GEMIN4 Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Bilateral congenital or childhood onset cataracts v4.15 GEMIN4 Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 27878435; 25558065; 30237576
Bilateral congenital or childhood onset cataracts v4.14 GEMIN4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v4.14 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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)
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