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| Mendeliome v1.4851 | SUPT6H | Zornitza Stark Marked gene: SUPT6H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4851 | SUPT6H | Zornitza Stark Gene: supt6h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4846 | SUPT6H | Lucy Spencer Classified gene: SUPT6H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4846 | SUPT6H | Lucy Spencer Gene: supt6h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4845 | SUPT6H |
Lucy Spencer gene: SUPT6H was added gene: SUPT6H was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SUPT6H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUPT6H were set to 41864309 Phenotypes for gene: SUPT6H were set to Neurodevelopmental disorder, MONDO:0700092, SUPT6H-related Review for gene: SUPT6H was set to AMBER Added comment: PMID 41864309 reports 18 individuals from 18 unrelated families with heterozygous SUPT6H variants presenting with a neurodevelopmental disorder. All individuals were from large cohorts of individuals with developmental disorders (including the DECIPHER cohort) and phenotype information was limited but features included: autism‑spectrum, developmental delay, and occasional congenital heart disease or orofacial clefting. All but 5 of the reported variants were present in gnomad with 3 or more hets. Asp175His, Lys256Arg, Arg380Gly, Gln517Lys and Trp1065* were all absent but 3 of these individuals were only listed as having CHD or autism. It is unclear whether the variants in this cohort were de novo however 4 of the 18 variants are in DECIPHER and all listed as de novo including Arg380Gly and Trp1065* which were absent from gnomad. Arg1495Gln and Arg1660Trp were also de novo in DECIPHER but have 6 and 34 hets respectively in gnomad. Heterozygous KO mice were not viable and parvalbumin‑specific conditional Supt6 knockout mice recapitulate motor impairment, seizures and depression‑like behavior. No functional performed on the variants. Only 5 of the 18 variants were absent from gnomad, limited phenotype information available and the things that are listed are not very consistent or specific, inheritance information not available for the vast majority. Amber but close to green Sources: Literature |
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