| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Maturity-onset Diabetes of the Young v0.15 | HNF1A | Bryony Thompson Marked gene: HNF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.15 | HNF1A | Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.15 | HNF1A | Bryony Thompson Publications for gene: HNF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.9 | PCBD1 |
Michelle Torres gene: PCBD1 was added gene: PCBD1 was added to Maturity-onset Diabetes of the Young. Sources: Literature Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 24848070; 24204001 Phenotypes for gene: PCBD1 were set to MODY Review for gene: PCBD1 was set to GREEN Added comment: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes. PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY Sources: Literature |
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| Maturity-onset Diabetes of the Young v0.0 | HNF1A |
Bryony Thompson gene: HNF1A was added gene: HNF1A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to Maturity Onset Diabetes of the Young; 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 |
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