Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KAT6A
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation (with Craniosynostosis), 616268
Publications
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: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on phenotypes: Added phenotypeCreated: 22 Sep 2017, 9:08 a.m.
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 domainCreated: 15 Sep 2015, 9:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Source NHS GMS was added to KAT6A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for KAT6A were set to Mental retardation (with Craniosynostosis), 616268
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
KAT6A was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review