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| Mendeliome v2.307 | HIC1 |
chirag patel changed review comment from: PMID 40444741 reports 5 individuals from 3 families and PMID 33672345 reports 2 individuals from 1 family with heterozygous missense HIC1 variants (p.Ala37Val, p.Gln432Arg x 2, p.Gly471Arg) causing serrated polyposis syndrome (adult‑onset). Clinical features include multiple serrated colonic polyps and increased colorectal cancer risk. HIC1 is a tumor suppressor gene which encodes a transcriptional repressor involved in the DNA damage response. Hic1 inactivation in mice cells is known to lead to cell cycle arrest, premature senescence, and chromosomal instability. PMID 40444741 reported functional assays in cell lines which showed loss‑of‑function of HIC1 transcriptional repression (increased γ‑H2AX - marker of DNA damage, and reduced SIRT1 promoter activity). Sources: Literature; to: PMID 40444741 reports 5 individuals from 3 families and PMID 33672345 reports 2 individuals from 1 family with multiple serrated colonic polyps and serrated polyposis syndrome (adult‑onset). They identified heterozygous missense HIC1 variants (p.Ala37Val - 134 hets/5 homs, v4; p.Gln432Arg x 2 - 1 het, v4; p.Gly471Arg - 57 hets, v4). HIC1 is a tumor suppressor gene which encodes a transcriptional repressor involved in the DNA damage response. Hic1 inactivation in mice cells is known to lead to cell cycle arrest, premature senescence, and chromosomal instability. PMID 40444741 reported functional assays in cell lines which showed loss‑of‑function of HIC1 transcriptional repression (increased γ‑H2AX - marker of DNA damage, and reduced SIRT1 promoter activity). Sources: Literature |
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| Mendeliome v2.306 | HIC1 |
chirag patel gene: HIC1 was added gene: HIC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIC1 were set to 40444741; 33672345 Phenotypes for gene: HIC1 were set to Sessile serrated polyposis cancer syndrome, MONDO:0014919 Review for gene: HIC1 was set to AMBER Added comment: PMID 40444741 reports 5 individuals from 3 families and PMID 33672345 reports 2 individuals from 1 family with heterozygous missense HIC1 variants (p.Ala37Val, p.Gln432Arg x 2, p.Gly471Arg) causing serrated polyposis syndrome (adult‑onset). Clinical features include multiple serrated colonic polyps and increased colorectal cancer risk. HIC1 is a tumor suppressor gene which encodes a transcriptional repressor involved in the DNA damage response. Hic1 inactivation in mice cells is known to lead to cell cycle arrest, premature senescence, and chromosomal instability. PMID 40444741 reported functional assays in cell lines which showed loss‑of‑function of HIC1 transcriptional repression (increased γ‑H2AX - marker of DNA damage, and reduced SIRT1 promoter activity). Sources: Literature |
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| Mendeliome v2.0 | SIRT1 | Gene migrated from ENSG00000096717 to ENSG00000096717 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2557 | SIRT1 | Zornitza Stark Phenotypes for gene: SIRT1 were changed from autoimmune disease, MONDO:0007179 to autoimmune disease, MONDO:0007179; monogenic diabetes MONDO:0015967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2556 | SIRT1 | Zornitza Stark Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2556 | SIRT1 | Zornitza Stark reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2479 | SIRT1 | Sangavi Sivagnanasundram reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008794; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1540 | SIRT1 | Zornitza Stark Marked gene: SIRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1540 | SIRT1 | Zornitza Stark Gene: sirt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1540 | SIRT1 | Zornitza Stark Classified gene: SIRT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1540 | SIRT1 | Zornitza Stark Gene: sirt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1538 | SIRT1 |
Achchuthan Shanmugasundram gene: SIRT1 was added gene: SIRT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIRT1 were set to 23473037 Phenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179 Review for gene: SIRT1 was set to RED Added comment: PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis. Sources: Literature |
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