Lipodystrophy - childhood onset
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
1 review
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:55 a.m. | Last Modified: 8 Mar 2022, 11:55 a.m.
Panel Version: 2.23
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549
- OMIM
- 147670
- Clinvar variants
- Variants in INSR
- Penetrance
- None
- Panels with this gene
-
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Insulin resistance (including lipodystrophy)
- Fetal anomalies
- Monogenic short stature
- Osteogenesis imperfecta
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Intellectual disability
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: INSR was added gene: INSR was added to Lipodystrophy - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549