| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Maturity-onset Diabetes of the Young v1.17 | RFX6 |
Bryony Thompson changed review comment from: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Null mouse model demonstrates abnormal pancreatic islet cells. Sources: Expert list; to: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Expected to have reduced penetrance. Null mouse model demonstrates abnormal pancreatic islet cells. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.5 | CEL | Chirag Patel Classified gene: CEL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.5 | CEL | Chirag Patel Gene: cel has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.4 | CEL | Chirag Patel Classified gene: CEL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.4 | CEL | Chirag Patel Gene: cel has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.3 | CEL | Chirag Patel reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.22 | CEL | Bryony Thompson Publications for gene: CEL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.8 | CEL | Bryony Thompson Marked gene: CEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.8 | CEL | Bryony Thompson Gene: cel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.8 | CEL | Bryony Thompson Classified gene: CEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.8 | CEL | Bryony Thompson Gene: cel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.6 | RFX6 |
Bryony Thompson gene: RFX6 was added gene: RFX6 was added to Maturity-onset Diabetes of the Young. Sources: Expert list Mode of inheritance for gene: RFX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RFX6 were set to 20148032; 25048417; 27185633; 29026101; 31001871 Phenotypes for gene: RFX6 were set to Maturity-onset diabetes of the young Review for gene: RFX6 was set to GREEN Added comment: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Null mouse model demonstrates abnormal pancreatic islet cells. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.5 | CEL | Zornitza Stark reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.0 | CEL |
Bryony Thompson gene: CEL was added gene: CEL was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||