Malformations of cortical development

Gene: CDK13

Green List (high evidence)

Gene was reassessed in view of the Red review by Zornitza Stark (24/08/2020). Brain MRI have revealed abnormalities of the corpus callosum in a subset of patients - a phenotype that would align best with the 'Cerebral malformations' super panel. As 'Malformations of cortical development' is the most relevant component of this super panel it is appropriate to include CDK13 as Green.

Created: 7 Sep 2021, 10:24 a.m. | Last Modified: 7 Sep 2021, 10:24 a.m.

Panel Version: 2.62

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, OMIM:617360

Publications

• 27479907
• 29021403

Red List (low evidence)

Cannot find evidence for association with cortical malformations. Corpus callosum abnormalities reported.

Created: 24 Aug 2020, 8:52 a.m. | Last Modified: 24 Aug 2020, 8:52 a.m.

Panel Version: 2.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360

Green List (high evidence)

Comment on list classification: Added to this panel and promoted to green after clinical input; sufficient evidence to be made green.

Created: 7 Nov 2017, 10:46 a.m.

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

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360

Publications

• 27479907
• 25529582