Research panel - Severe Paediatric Disorders
Gene: INSR

INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: INSR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) | Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) | Leprechaunism, 246200 (3) | Rabson-Mendenhall syndrome, 262190 (3); Mode of inheritance: ND | Autosomal dominant | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Leprechaunism, 246200
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
Rabson-Mendenhall syndrome, 262190
Hyperinsulinemic hypoglycemia, familial, 5, 609968

OMIM

147670

Clinvar variants

Variants in INSR

Penetrance

None

Publications

30847515

Panels with this gene