IUGR and IGF abnormalities

Gene: SRCAP

Green List (high evidence)

SRCAP (Snf2 related CREBBP activator protein)
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 7 panels

3 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

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