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| 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 |
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| Maturity-onset Diabetes of the Young v1.17 | RFX6 | Bryony Thompson edited their review of gene: RFX6: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.17 | RFX6 | Bryony Thompson Classified gene: RFX6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.17 | RFX6 | Bryony Thompson Gene: rfx6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.16 | RFX6 | Bryony Thompson Phenotypes for gene: RFX6 were changed from Maturity-onset diabetes of the young to maturity-onset diabetes of the young MONDO:0018911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.14 | RFX6 | Bryony Thompson Publications for gene: RFX6 were set to 20148032; 25048417; 27185633; 29026101; 31001871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.13 | RFX6 | Bryony Thompson Classified gene: RFX6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.13 | RFX6 | Bryony Thompson Gene: rfx6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v1.12 | RFX6 | Bryony Thompson edited their review of gene: RFX6: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found heterozygous variants (mainly LoF) in RFX6 were ‘Inconclusive’ with being highly penetrant for diabetes (met one of two statistical criteria - met enrichment criteria & failed comparison to maximum credible allele frequency); Changed rating: AMBER; Changed publications: 20148032, 25048417, 27185633, 29026101, 31001871, 36208030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.7 | RFX6 | Bryony Thompson Marked gene: RFX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.7 | RFX6 | Bryony Thompson Gene: rfx6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.7 | RFX6 | Bryony Thompson Classified gene: RFX6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Maturity-onset Diabetes of the Young v0.7 | RFX6 | Bryony Thompson Gene: rfx6 has been classified as Green List (High 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 |
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