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Mendeliome

Gene: GCGR

Green List (high evidence)

GCGR (glucagon receptor)
EnsemblGeneIds (GRCh38): ENSG00000215644
EnsemblGeneIds (GRCh37): ENSG00000215644
OMIM: 138033, Gene2Phenotype
GCGR is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mahvash disease (MVAH) is caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonaemia without glucagonoma syndrome, and occasional hypoglycaemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumours.

More than 5 unrelated families reported.
Sources: Expert list
Created: 26 Apr 2021, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mahvash disease, MIM# 619290

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mahvash disease, MIM# 619290
OMIM
138033
Clinvar variants
Variants in GCGR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcgr has been classified as Green List (High Evidence).

26 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcgr has been classified as Green List (High Evidence).

26 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCGR was added gene: GCGR was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: GCGR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCGR were set to 19657311; 25695890; 27933176; 30032256; 30294546 Phenotypes for gene: GCGR were set to Mahvash disease, MIM# 619290 Review for gene: GCGR was set to GREEN