Monogenic diabetes
Gene: APPL1
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).Created: 28 Jan 2019, 9:37 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: APPL1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511
Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511 to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Phenotypes for gene: APPL1 were changed from to {Maturity-onset diabetes of the young, type 14}, 616511
Ivone Leong: Initial gene list and info col
Mode of inheritance for gene: APPL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: appl1 has been classified as Green List (High Evidence).
gene: APPL1 was added gene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS Mode of inheritance for gene: APPL1 was set to