Congenital hyperinsulinism
Gene: GLUD1EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: GLUD1; 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: Hyperinsulinism Hyperammonaemia syndrome.Created: 11 Jan 2019, 2:24 p.m.
Ellen Thomas (Genomics England Curator)
Comment on mode of pathogenicity: Activating GLUD1 mutations cause this phenotypeCreated: 11 Apr 2016, 2:01 p.m.
Sian Ellard (University of Exeter Medical School)
Activating GLUD1 mutations cause this phenotypeCreated: 18 Oct 2015, 7:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hyperinsulinism-hyperammonemia syndrome, 606762
- Hyperinsulinism, Dominant
- OMIM
- 138130
- Clinvar variants
- Variants in GLUD1
- Penetrance
- Complete
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Congenital hyperinsulinism
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GLUD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen Thomas (Genomics England Curator)Mode of pathogenicity for GLUD1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
GEL ()GLUD1 was added to Hyperinsulinismpanel. Sources: UKGTN
Added New Source
GEL ()GLUD1 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()GLUD1 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen