Severe microcephaly
Gene: CREBBP
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment when marking as ready: Green expert review plus >3 cases of CREBBP mutations causing Rubinstein-Taybi syndrome.Created: 6 Feb 2017, 5:16 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 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.Created: 6 Feb 2017, 5:12 p.m.
Can be small at birthCreated: 6 Feb 2017, 5 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to CREBBP.
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CREBBP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
CREBBP was created by rfoulger