Silver Russell syndrome
Gene: IGFBP1
IGFBP1 (insulin like growth factor binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000146678
EnsemblGeneIds (GRCh37): ENSG00000146678
OMIM: 146730, Gene2Phenotype
IGFBP1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000146678
EnsemblGeneIds (GRCh37): ENSG00000146678
OMIM: 146730, Gene2Phenotype
IGFBP1 is in 2 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on publications: Reports variants in SRS and normal patients, therefore non pathogenic, but maybe a useful tool for analysis of imprinting status and for detection of possible changes in the imprinting patterns of this and IGFBP3Created: 27 Jun 2016, 1:26 p.m.
Comment on publications: Reports variants in SRS and normal patients, therefore non pathogenic, but maybe a useful tool for analysis of imprinting status and for detection of possible changes in the imprinting patterns of this and IGFBP3Created: 27 Jun 2016, 1:19 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- Phenotypes
-
- Silver-Russell Syndrome
- OMIM
- 146730
- Clinvar variants
- Variants in IGFBP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
27 Jun 2016, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for IGFBP1 were set to 10364674
27 Jun 2016, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for IGFBP1 were set to 10364674
27 Jun 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)IGFBP1 was created by sleigh
27 Jun 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)IGFBP1 was added to Silver Russell syndromepanel. Sources: Literature