IUGR and IGF abnormalities
Gene: SRCAP
SRCAP (Snf2 related CREBBP activator protein)
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 7 panels
3 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Rebecca Foulger (Genomics England curator)
Comment on phenotypes: Updated Phenotype field to include current OMIM disorder name and ID.Created: 17 Aug 2017, 9:18 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Floating-Harbor syndrome, 136140
- OMIM
- 611421
- Clinvar variants
- Variants in SRCAP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
17 Aug 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SRCAP were set to Floating-Harbor syndrome, 136140
3 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for SRCAP were set to Floating harbour
14 Mar 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for SRCAP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SRCAP was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory