IUGR and IGF abnormalities
Gene: INSR
INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Leprechaunism
- OMIM
- 147670
- Clinvar variants
- Variants in INSR
- Penetrance
- Complete
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Neonatal diabetes
- Monogenic diabetes
- Monogenic short stature
- Fetal anomalies
- Intellectual disability
- Familial diabetes
- Multi-organ autoimmune diabetes
- IUGR and IGF abnormalities
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- Severe insulin resistance and lipodystrophy syndromes
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for INSR were set to Leprechaunism
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for INSR was changed to BIALLELIC, autosomal or pseudoautosomal
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()INSR was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory