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Growth failure
Gene: INSR

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)

Green List (high evidence)

Well established gene-disease associations. Growth failure is a key feature.
Created: 30 Aug 2021, 1:45 a.m. | Last Modified: 30 Aug 2021, 1:45 a.m.

Panel Version: 0.338

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Aug 2021, 1:45 a.m.
Last Modified: 30 Aug 2021, 1:45 a.m.
Panel version: 0.338

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

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

OMIM

Clinvar variants

Variants in INSR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Aug 2021, 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).

30 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INSR were set to

30 Aug 2021, 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).

19 Jul 2021, Gel status: 1

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 Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism