Hyperinsulinism
Gene: INSREnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Monoallelic variants cause hyperinsulinaemic hypoglycaemia; only one family reported with bi-allelic variants and atypical presentation of Rabson-Mendenhall syndrome.
Sources: Expert ReviewCreated: 14 Feb 2020, 3:21 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
- OMIM
- 147670
- Clinvar variants
- Variants in INSR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: insr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: insr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: INSR was added gene: INSR was added to Hyperinsulinism. Sources: Expert Review Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INSR were set to 15161766; 26691667; 31989990 Phenotypes for gene: INSR were set to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Review for gene: INSR was set to GREEN