Activity
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13 actions
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| Intellectual disability v8.97 | FOSL2 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: FOSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | FOSL2 | Sarah Leigh reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | FOSL2 |
Sarah Leigh 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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| Intellectual disability v7.55 | FOSL2 | Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.55 | FOSL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.55 | FOSL2 | Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.54 | FOSL2 | Achchuthan Shanmugasundram Publications for gene: FOSL2 were set to PMID: 36197437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.54 | FOSL2 | Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.54 | FOSL2 | Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.53 | FOSL2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.53 | FOSL2 | Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, OMIM:620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.18 | FOSL2 |
Dmitrijs Rots changed review comment from: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2. Sources: Literature; to: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with NDD and aplasia cutis and truncating variants in the last exon of FOSL2. Sources: Literature |
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| Intellectual disability v7.18 | FOSL2 |
Dmitrijs Rots gene: FOSL2 was added gene: FOSL2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to PMID: 36197437 Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome Mode of pathogenicity for gene: FOSL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FOSL2 was set to GREEN Added comment: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2. Sources: Literature |
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