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  3. INSR
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Monogenic Diabetes

Gene: INSR

Green List (high evidence)
INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 11 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Congenital insulin resistance, feature of type 2 diabetes mellitus
Mild to severe insulin resistance phenotype, associated with several syndromes
Created: 23 May 2024, 1:59 a.m. | Last Modified: 23 May 2024, 1:59 a.m.
Panel Version: 0.125

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517

Publications

Created: 23 May 2024, 1:59 a.m.
Last Modified: 23 May 2024, 1:59 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • insulin-resistance syndrome type A MONDO:0012520
  • Rabson-Mendenhall syndrome MONDO:0009874
  • Donohue syndrome MONDO:0009517
OMIM
147670
Clinvar variants
Variants in INSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: insr has been classified as Green List (High Evidence).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INSR were changed from Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190 to insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INSR were set to 8288049

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INSR was added gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS 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 Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190