Common deletion and duplication syndromes
Region: ISCA-37406-LossChromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
GRCh38 Position: 3725055-3880120
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 0 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established recurrent CNV.
Sources: Expert listCreated: 30 Nov 2020, 7:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Publications
Details
- ISCA ID
- ISCA-37406-Loss
- ISCA Region Name
- Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
- Chromosome
- 16
- GRCh38 Coordinates
- 3725055-3880120
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
- Tags
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37406-loss has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37406-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37406-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566 Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome Review for Region: ISCA-37406-Loss was set to GREEN