Cerebellar and Pontocerebellar Hypoplasia
Gene: DDX3X

DDX3X (DEAD-box helicase 3, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Brain malformation findings reviewed in PMID 30936465: cortical and corpus callosum malformations more prominent/common findings in affected individuals, but pontine and cerebellar hypoplasia reported.
Created: 27 Apr 2020, 3:23 a.m. | Last Modified: 27 Apr 2020, 3:23 a.m.

Panel Version: 0.59

Mode of inheritance
Other

Phenotypes
Mental retardation, X-linked 102, MIM# 300958

Publications

30936465

Created: 27 Apr 2020, 3:23 a.m.
Last Modified: 27 Apr 2020, 3:23 a.m.
Panel version: 0.59

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 26235985 - 13/37 patients had corpus callosum hypoplasia but not mention of cerebellar atrophy in any patients.

PMID: 30936465 - hypoplasia of corpus callosum in 3/53 patients

Have left as AMBER but would rather this as RED
Created: 27 Apr 2020, 1:41 a.m. | Last Modified: 27 Apr 2020, 1:41 a.m.

Panel Version: 0.53

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 102 300958

Publications

PMID: 26235985
30936465

Created: 27 Apr 2020, 1:41 a.m.
Last Modified: 27 Apr 2020, 1:41 a.m.
Panel version: 0.53

Details

Mode of Inheritance

Other

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, X-linked 102, MIM# 300958

OMIM

300160

Clinvar variants

Variants in DDX3X

Penetrance

None

Publications

Panels with this gene