Activity
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8 actions
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| Bilateral congenital or childhood onset cataracts v6.6 | FOSL2 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: FOSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v6.6 | FOSL2 | Arina Puzriakova reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v6.5 | FOSL2 |
Arina Puzriakova Source NHS GMS was added to FOSL2. Source Expert Review Green was added to FOSL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v5.6 | FOSL2 | Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.6 | FOSL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.6 | FOSL2 | Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.5 | FOSL2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.5 | FOSL2 |
Achchuthan Shanmugasundram gene: FOSL2 was added gene: FOSL2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to 36197437 Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 Review for gene: FOSL2 was set to GREEN Added comment: PMID:36197437 reported 11 individuals from 10 unrelated families with heterozygous PTC variants (4 frameshift and 3 nonsense) in the last exon of FOSL2 gene. They all had a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Five individuals had cataracts, mostly bilateral, either congenital or diagnosed during early childhood. This gene has been associated with relevant phenotypes in both OMIM (MIM #620789) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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