1. Panels
  2. Clefting disorders
  3. CREBBP
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

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)

Cleft palate is a reported feature in several patients.
Sources: Expert Review
Created: 9 Aug 2024, 6:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Menke-Hennekam syndrome 1, MIM# 618332

Publications

Created: 9 Aug 2024, 6:01 a.m.

Panel version: 0.253

History Filter Activity

9 Aug 2024, 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).

9 Aug 2024, 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).

9 Aug 2024, 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 Clefting disorders. Sources: Expert Review Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to 35626936 Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332 Review for gene: CREBBP was set to GREEN