Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: CREBBP

Green List (high evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 16 panels

4 reviews

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy (https://www.ncbi.nlm.nih.gov/pubmed/29460469). seizures are also listed as a feature of Rubinstein-Taybi syndrome.
Created: 7 Oct 2019, 2:15 p.m. | Last Modified: 7 Oct 2019, 2:15 p.m.
Panel Version: 1.352

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Changed MOI from 'imprinted status unknown' to 'NOT imprinted' to match reviews from GLH experts Tracy Lester and Alisdair McNeill.
Created: 8 Oct 2019, 9:51 a.m. | Last Modified: 8 Oct 2019, 9:51 a.m.
Panel Version: 1.353
The Green rating by Dr Alisdair McNeill (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of CREBBP.
Created: 8 Oct 2019, 9:50 a.m. | Last Modified: 8 Oct 2019, 9:50 a.m.
Panel Version: 1.352
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Rubinstein-Taybi syndrome 1 (RSTS1). Multiple congenital anomaly syndrome characterised by mental retardation, postnatal growth defic, microcephaly, broad thumbs and halluces and dysmorhic facial features. No mention of seizures/epilepsy in any if the clinical patient descritipns on OMIM. Ref used on panel app: Bartsch et al, 2010 - family 2 with classic RTS - 1 of the 3 probands (proband 5) had severe complex seizures atr the age if 2 years and a year later a slow growing ganglioma of the brain was surgically removed - the seizures stopped after surgery. Schorrey et al, 2008 - seizure disorder more common in the CREBBP group (15/52 patients).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome, 180849

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with Rubinstein-Taybi syndrome 1 in OMIM and as confirmed Gen2Phen gene for this phenotype. Seizures are reported as a feature of Rubinstein-Taybi syndrome 1, in a single 2 year old girl who had several complex focal seizures, a slow growing ganglioglioma of the brain (left temporo–medio–basal region) was found a year later, after surgical removal of the tumour her seizures ceased (PMID 20684013). In PMID 18792986 15/52 (29%) cases of Rubinstein-Taybi syndrome with a CREBBP variant had seizures as part of their phenotype.
Sources: Expert list from Ian Berry, Leeds
Created: 8 Nov 2018, 2:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Rubinstein-Taybi syndrome 1 180849

Publications

History Filter Activity

8 Oct 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CREBBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CREBBP.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CREBBP.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with Rubinstein-Tay

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: crebbp has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CREBBP were set to 20684013

8 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: crebbp has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: CREBBP was added gene: CREBBP was added to Genetic Epilepsy Syndromes. Sources: Expert list Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 20684013 Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1 180849 Review for gene: CREBBP was set to RED