Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 9:14 a.m.
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Mode of inheritance: A variant on one allele of this gene can cause the disease, and imprinting has not been implicated. Mode of pathogenicity: Gain of function.
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism-hyperammonemia syndrome, 606762
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
GLUD1 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Publications for GLUD1 were set to 11214910; 10636977
GLUD1 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen