Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: IGF1R

Green List (high evidence)

IGF1R (insulin like growth factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotype overlaps with Silver-Russel (caused by the epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region) and SHORT syndromes (both missense and truncating in PIK3R1), however, microcephaly appears to be highly specific of IGF1R
Multiple families (more than 3). Predominantly AD inheritance. Homozygous patient had a more severe phenotype, cHet did not phenotypically differ from hets
Functional studies were performed for both missense and PTC
Created: 20 Apr 2020, 5:13 a.m. | Last Modified: 20 Apr 2020, 5:13 a.m.
Panel Version: 0.2536

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Insulin-like growth factor I, resistance to, MIM# 270450

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Insulin-like growth factor I, resistance to, MIM# 270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igf1r has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGF1R were set to 31586944

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGF1R were set to

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGF1R was added gene: IGF1R was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1R was set to Unknown