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Intellectual disability syndromic and non-syndromic

Gene: INSR

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype of Leprechaunism, and some of the individuals with Rabson-Mendenhall are described as 'mentally precocious'.
Created: 7 Feb 2020, 7:39 a.m. | Last Modified: 7 Feb 2020, 7:39 a.m.
Panel Version: 0.2040

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Leprechaunism, MIM# 246200
  • Rabson-Mendenhall syndrome, MIM# 262190
OMIM
147670
Clinvar variants
Variants in INSR
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: insr has been classified as Red List (Low Evidence).

7 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INSR were changed from to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190

7 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: insr has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INSR was added gene: INSR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INSR was set to Unknown