Microcephaly
Gene: IGF1REnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe IUGR including significant microcephaly, both mono-allelic and bi-allelic variants reported.
Sources: Expert listCreated: 1 Sep 2020, 10:10 a.m.
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
- Expert list
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igf1r has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igf1r has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IGF1R was added gene: IGF1R was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGF1R were set to 14657428; 25040157; 23045302; 26252249; 15928254 Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, MIM# 270450 Review for gene: IGF1R was set to GREEN