Congenital hyperinsulinism

Gene: GLUD1

Green List (high evidence)

GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 phenotype
Created: 11 Apr 2016, 2:01 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Activating GLUD1 mutations cause this phenotype
Created: 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

History Filter Activity

11 Jan 2019, Gel status: 3

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)

11 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Apr 2016, Gel status: 3

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

11 Apr 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

GLUD1 was added to Hyperinsulinismpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GLUD1 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GLUD1 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen