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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well characterised gene disease associations. Mono-allelic and bi-allelic variants cause a spectrum of disorders associated with insulin resistance. AR conditions are Donohue syndrome MIM#246200 and Rabson-Mendenhall syndrome MIM#262190. Onset in infancy.

Conditions are characterised by severe insulin resistance. Onset in infancy, can be neonatal with IUGR. Affected infants experience failure to thrive, with a lack of subcutaneous fat; muscle atrophy; hirsutism; multiple cysts on the ovaries (in females); enlargement of the nipples, genitalia, kidneys, heart, and other organs. Infections are common, beginning in infancy. Distinctive facial features are present (bulging eyes, thick lips, upturned nostrils, and low-set ears).
Donohue syndrome - greatest severity due to variants of affected individuals are mostly null/LoF with minimal/no functional protein produced. Most children do not survive past the age of 2.
Rabson-Mendenhall syndrome - milder presentation than Donohue, individuals often have a pathogenic variant(s) which retain some level of protein function/activity. Development of diabetes mellitus and subsequent complications can lead to death in 2nd-3rd decade of life.
Created: 7 Nov 2024, 2:34 a.m. | Last Modified: 7 Nov 2024, 2:34 a.m.
Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome MIM#262190

Publications

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INSR was added gene: INSR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)