This Panel is marked as Retired
Growth failure in early childhood
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Leprechaunism
- OMIM
- 147670
- Clinvar variants
- Variants in INSR
- Penetrance
- None
- Panels with this gene
-
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Intellectual disability
- Fetal anomalies
- Osteogenesis imperfecta
- Monogenic short stature
- Familial diabetes
- Multi-organ autoimmune diabetes
- IUGR and IGF abnormalities
- Neonatal diabetes
- Insulin resistance (including lipodystrophy)
- Congenital hyperinsulinism
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to INSR. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: INSR was added gene: INSR was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism