Monogenic diabetes

Gene: INSR

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: INSR; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Insulin resistance.
Created: 11 Jan 2019, 10:04 a.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
610549

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to two expert reviews.
Created: 7 Jun 2016, 11:39 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leprechaunism, 246200
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
  • Rabson-Mendenhall syndrome, 262190
  • Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans
  • OMIM 610549
  • Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities
  • Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
  • Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans
  • Hyperinsulinemic hypoglycemia, familial, 5, 609968
  • DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM
147670
Clinvar variants
Variants in INSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: INSR were set to PMID: 8288049

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INSR.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190 for gene: INSR

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549 for gene: INSR Publications for gene INSR were changed from 8288049 to PMID: 8288049

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: INSR was added gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INSR were set to 8288049 Phenotypes for gene: INSR were set to Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS