DEMO Diabetes neonatal onset
Gene: EIF2S3
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).Created: 28 Jan 2019, 10:24 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: EIF2S3; 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: MEHMO syndrome (X-linked NDM and microcephaly).Created: 11 Jan 2019, 4:27 p.m.
gene: EIF2S3 was added gene: EIF2S3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF2S3 were set to 28055140 Phenotypes for gene: EIF2S3 were set to diabetes; hypogonadism; MEHMO syndrome (X-linked NDM and microcephaly),300148; microcephaly; intellectual disability; epilepsy; central obesity; hypogenitalism