DEMO Diabetes neonatal onset
Gene: PTF1A
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: PTF1A; 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: Isolated neonatal diabetes; neonatal diabetes and cerebellar agenesis.Created: 11 Jan 2019, 4:27 p.m.
Comment on list classification: Rated green by Expert reviewer. Confirmed DD-G2P gene for 'Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM:609069'. Part of Exeter neonatal diabetes screen. 3 unrelated cases of PTF1A variants causing MIM:609069 listed in OMIM.Created: 20 Apr 2017, 9:42 a.m.
Comment on mode of inheritance: Biallelic mode-of-inheritance confirmed by OMIM and G2P.Created: 20 Apr 2017, 9:38 a.m.
gene: PTF1A was added gene: PTF1A was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes with cerebellar agenesis; Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069