Clefting disorders
Gene: IGF2EnsemblGeneIds (GRCh38): ENSG00000167244
EnsemblGeneIds (GRCh37): ENSG00000167244
OMIM: 147470, Gene2Phenotype
IGF2 is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 31544945 - cleft palate reported in 6/14 patients with SRS
Sources: LiteratureCreated: 21 Jun 2021, 2:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Silver-Russell syndrome 3 MIM#616489
Publications
- PMID: 31544945
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Silver-Russell syndrome 3 MIM#616489
- OMIM
- 147470
- Clinvar variants
- Variants in IGF2
- Penetrance
- None
- Publications
-
- PMID: 31544945
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igf2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: IGF2 was added gene: IGF2 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to PMID: 31544945 Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489 Review for gene: IGF2 was set to GREEN