Microcephaly
Gene: IGF1EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe growth retardation including significant microcephaly.
Sources: Expert listCreated: 1 Sep 2020, 10:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM# 608747
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM# 608747
- OMIM
- 147440
- Clinvar variants
- Variants in IGF1
- 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: igf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igf1 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: IGF1 was added gene: IGF1 was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGF1 were set to 15769976; 14684690; 8857020 Phenotypes for gene: IGF1 were set to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM# 608747 Review for gene: IGF1 was set to GREEN