Severe microcephaly

Gene: CREBBP

Green List (high evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 14 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Green expert review plus >3 cases of CREBBP mutations causing Rubinstein-Taybi syndrome.
6 Feb 2017, 5:16 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
6 Feb 2017, 5:16 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green expert review plus >3 cases of CREBBP mutations causing Rubinstein-Taybi syndrome, which includes microcephaly as a phenotype.
6 Feb 2017, 5:12 p.m.

emma baple (South West GMC)

Green List (high evidence)

Can be small at birth
6 Feb 2017, 5 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

30 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CREBBP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CREBBP was created by rfoulger