IUGR and IGF abnormalities

Gene: CREBBP

Green List (high evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 8 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment on phenotypes: Prenatal growth often normal, but rapid decline postnatally
3 Apr 2016, 8:08 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rubenstein Taybi
OMIM
600140
Clinvar variants
Variants in CREBBP
Penetrance
Complete
Panels with this gene

History Filter Activity

25 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).

3 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for CREBBP were set to Rubenstein Taybi

3 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CREBBP was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory