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Osteogenesis imperfecta

Gene: SRCAP

No list

SRCAP (Snf2 related CREBBP activator protein)
EnsemblGeneIds (GRCh38): ENSG00000080603
EnsemblGeneIds (GRCh37): ENSG00000080603
OMIM: 611421, Gene2Phenotype
SRCAP is in 8 panels

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:05 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
curated_removed
OMIM
611421
Clinvar variants
Variants in SRCAP
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: SRCAP.

16 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SRCAP was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory