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| Mendeliome v1.3752 | ELMSAN1 | Zornitza Stark Marked gene: ELMSAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3752 | ELMSAN1 | Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3752 | ELMSAN1 | Zornitza Stark Classified gene: ELMSAN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3752 | ELMSAN1 | Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3751 | ELMSAN1 |
Zornitza Stark gene: ELMSAN1 was added gene: ELMSAN1 was added to Mendeliome. Sources: Literature new gene name tags were added to gene: ELMSAN1. Mode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related Review for gene: ELMSAN1 was set to AMBER Added comment: PMID 41290615 reports 2 individuals from 2 unrelated families with the same heterozygous de novo missense variant p.Tyr654Ser presenting with a neurodevelopmental disorder characterized by speech delay, joint contractures, dysmorphic facial features, and gastrointestinal dysmotility. Functional studies demonstrated that the Y654S variant lies in an auto‑inhibitory loop of the MiDAC HDAC complex, causes a 3‑5‑fold increase in deacetylase activity, shows increased phosphorylation, and leads to reciprocal gene‑expression changes in patient fibroblasts versus loss‑of‑function models. New HGNC approved name is MIDEAS. Sources: Literature |
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