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Severe Paediatric Disorders

Gene: INSR

Green List (high evidence)

INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 14 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

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
Panels with this gene