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Osteogenesis imperfecta

Gene: CREBBP

Red List (low evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 19 panels

3 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Red List (low evidence)

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red because of disagreement between expert reviewers
Created: 10 May 2016, 12:47 p.m.

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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