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Genetic Epilepsy

Gene: CREBBP

Green List (high evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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
Sources: Expert list
Created: 21 Jan 2020, 9:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Menke-Hennekam syndrome 1, MIM# 618332

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CREBBP was added gene: CREBBP was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to 29460469 Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332 Review for gene: CREBBP was set to GREEN gene: CREBBP was marked as current diagnostic