Cerebral Palsy
Gene: DDX59
DDX59 (DEAD-box helicase 59)
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000118197
EnsemblGeneIds (GRCh37): ENSG00000118197
OMIM: 615464, Gene2Phenotype
DDX59 is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic variants (1 missense, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. OFD5 has not been previously associated with CP, however white matter abnormalities on MRI have been reported.
Sources: LiteratureCreated: 13 Jun 2024, 1:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, MIM#174300
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Orofaciodigital syndrome V, MIM#174300
- OMIM
- 615464
- Clinvar variants
- Variants in DDX59
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddx59 has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddx59 has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: DDX59 was added gene: DDX59 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to PMID: 38693247 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MIM#174300