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DDG2P

Gene: IGF2

Green List (high evidence)

IGF2 (insulin like growth factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167244
EnsemblGeneIds (GRCh37): ENSG00000167244
OMIM: 147470, Gene2Phenotype
IGF2 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, loss of function. imprinted MOI listed in DD-G2P download for CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 and BECKWITH-WIEDEMANN SYNDROME 130650. MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) MOI taken from PanelApp list of imprinted genes.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860
OMIM
147470
Clinvar variants
Variants in IGF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: IGF2

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: IGF2 was added gene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 26154720 Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860