Silver Russell syndrome

Gene: IGFBP1

Red List (low evidence)

IGFBP1 (insulin like growth factor binding protein 1)
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 IGFBP3
Created: 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 IGFBP3
Created: 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

Added New Source

Sarah Leigh (Genomics England Curator)

IGFBP1 was added to Silver Russell syndromepanel. Sources: Literature

27 Jun 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IGFBP1 was created by sleigh