Familial diabetesGene: PPP1R15B
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Created: 28 Jan 2019, 9:40 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: PPP1R15B; 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: Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability.
Created: 11 Jan 2019, 10:04 a.m.
Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, 616817
gene: PPP1R15B was added gene: PPP1R15B was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal