Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CDK13
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.
Panel Version: 4.174
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are four unrelated cases identified with heterozygous variants in CDK13 gene and presenting with craniosynostosis. Hence, this gene can be promoted to GREEN at the next GMS update.Created: 10 May 2023, 10:57 a.m. | Last Modified: 10 May 2023, 10:57 a.m.
Panel Version: 4.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, OMIM:617360; craniosynostosis, MONDO:0015469
Publications
• A de novo missense variant was identified within the UK 100kGP cohort of patients with craniosynostosis: c.2563G>C; p.(Asp855His) (Hyder et al., 2021).
• A further de novo variant was identified in an individual within the Norwegian cohort: c.2524A>G; p.(Asn842Asp) (Tønne et al., 2021).
• Two patients were described with craniosynostosis in a cohort of patients with congenital heart defects, dysmorphic facial features, and intellectual disability (Bostwick et al., 2017)
Four independent cases identified.
Sources: LiteratureCreated: 2 Mar 2023, 1:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_23_promote_green was removed from gene: CDK13.
Source Expert Review Green was added to CDK13. Source NHS GMS was added to CDK13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: CDK13.
Gene: cdk13 has been classified as Amber List (Moderate Evidence).
Publications for gene: CDK13 were set to
Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, OMIM:617360; craniosynostosis, MONDO:0015469
gene: CDK13 was added gene: CDK13 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: CDK13 was set to GREEN