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Fetal anomalies

Gene: CREBBP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with RTS, deletions reasonably frequent. Microcephaly is a feature.

Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.
Created: 2 Sep 2020, 9:42 a.m. | Last Modified: 22 Nov 2021, 2:15 a.m.
Panel Version: 0.607

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332

Publications

Created: 2 Sep 2020, 9:42 a.m.
Last Modified: 22 Nov 2021, 2:15 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2925

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Microcephaly is a feature of both syndromes (OMIM, GeneReviews)

Variants causing Menke-Hennekam syndrome occur in 3' end of exon 30 and 5' end of exon 31 and are de novo missense versus Rubinstein-Taybi which are LoF variants.


PMID: 27311832
7 out of 11 Menke-Hennekam probands with microcephaly (<3rd centile)

PMID: 29460469
13 new Menke-Hennekam probands with 3 having OFCs of <-3 SD

PMID: 24989455 provides growth charts of 92 molecularly diagnosed Rubinstein-Taybi patients. Mean of -1.89 SD for males and -2.71 SD for females
Sources: Literature
Created: 2 Sep 2020, 8:05 a.m.

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

Phenotypes
Menke-Hennekam syndrome 1(MIM#618332); Rubinstein-Taybi syndrome 1(MIM#180849)

Publications

Created: 2 Sep 2020, 8:05 a.m.

Panel version: Imported from Microcephaly panel version 0.328

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Rubinstein-Taybi syndrome 1, MIM# 180849
  • Menke-Hennekam syndrome 1, MIM# 618332
OMIM
600140
Clinvar variants
Variants in CREBBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, 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).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CREBBP were changed from RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CREBBP were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CREBBP was added gene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features