Genomic imprinting
Gene: GRB10EnsemblGeneIds (GRCh38): ENSG00000106070
EnsemblGeneIds (GRCh37): ENSG00000106070
OMIM: 601523, Gene2Phenotype
GRB10 is in 1 panel
1 review
Sarah Leigh (Genomics England Curator)
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The imprinted gene, GRB10, has been associated with Silver-Russell syndrome 2, OMIM:618905 in cases with duplication of 7p including GRB10 (PMID: 10631135;12384779;10987657;33187293).Created: 21 Jan 2022, 7:54 a.m. | Last Modified: 21 Jan 2022, 7:58 a.m.
Panel Version: 0.123
Imprinted, isoform-specific expression.Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Silver-Russell syndrome 2, OMIM:618905
- OMIM
- 601523
- Clinvar variants
- Variants in GRB10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: grb10 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GRB10 were changed from Silver-Russell syndrome to Silver-Russell syndrome 2, OMIM:618905
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GRB10 were set to 10861285; 10856193; 27370225; 10856193; 11112662; 30794780; 29455159; http://igc.otago.ac.nz/home.html
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GRB10 were set to 10861285; 10856193; 27370225; 10856193; 11112662; 30794780; http://igc.otago.ac.nz/home.html
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: grb10 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GRB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GRB10 were changed from to Silver-Russell syndrome
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GRB10 were set to 30794780; http://igc.otago.ac.nz/home.html
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: GRB10 was added gene: GRB10 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: GRB10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRB10 were set to 30794780; http://igc.otago.ac.nz/home.html