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| Familial diabetes v1.67 | HNF1A | Arina Puzriakova Phenotypes for gene: HNF1A were changed from MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.65 | PLIN1 | Sarah Leigh edited their review of gene: PLIN1: Added comment: PLIN1 haploinsufficiency is not responsible for the phenotype associated with this gene (PMID:30020498). It would appear that frameshifting variants that escape nonsense-mediated mRNA decay (NMD) are expressed and have a dominant negative effect. At least four frame shifting variants that result in the inclusion of aberrant C-terminal amino acids (125 - 166 amino acids) have been reported in cases of Lipodystrophy, familial partial, type 4 (OMIM:613877) (PMID:21345103;25114292;29747582), together with segregation information in two cases (PMID:21345103). Functional studies show that the variant mRNA is expressed at a lower level than wild type, the variant perilipin was correctly targeted to the lipid-droplet surface, but droplets were smaller than in the wild type cells (PMID:21345103; 25114292).; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.34 | CEL | Ivone Leong Classified gene: CEL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.34 | CEL | Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.34 | CEL | Ivone Leong Gene: cel has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.33 | CEL | Ivone Leong Publications for gene: CEL were set to PMID: 16369531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||