Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: KAT6A

Green List (high evidence)

Tham et al report 5 unrelated cases with microcephaly and/or CSS (2 have CSS, 1 has plagiocephaly). All with truncating variants in C-terminal transactivation domain. ; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation (with Craniosynostosis), 616268

Publications

• 25728775
• 25728777

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KAT6A; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Comment on phenotypes: Added phenotype

Created: 22 Sep 2017, 9:08 a.m.

Green List (high evidence)

New syndrome comprising primary microcephaly, global developmental delay including profound speech delay, and craniofacial dysmorphism, also feeding difficulties, cardiac defects, and ocular anomalies. Craniosynostosis in a minority. Mutations are truncations located in the C-terminal transactivation domain

Created: 15 Sep 2015, 9:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 25728777
• 25728775