Early onset or syndromic epilepsy
Gene: CREBBP
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
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
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
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, LeedsCreated: 8 Nov 2018, 2:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1 180849
Publications
Mode of inheritance for gene: CREBBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source Wessex and West Midlands GLH was added to CREBBP.
Source NHS GMS was added to CREBBP.
Sarah Leigh: Associated with Rubinstein-Tay
Gene: crebbp has been classified as Green List (High Evidence).
Publications for gene: CREBBP were set to 20684013
Gene: crebbp has been classified as Red List (Low Evidence).
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