Craniosynostosis

Gene: KAT6A

Green List (high evidence)

KAT6A (lysine acetyltransferase 6A)
EnsemblGeneIds (GRCh38): ENSG00000083168
EnsemblGeneIds (GRCh37): ENSG00000083168
OMIM: 601408, Gene2Phenotype
KAT6A is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Eleanor Williams (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype
Created: 22 Sep 2017, 9:08 a.m.

Andrew Wilkie (University of Oxford)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mental retardation (with Craniosynostosis), 616268
OMIM
601408
Clinvar variants
Variants in KAT6A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KAT6A. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KAT6A were set to Mental retardation (with Craniosynostosis), 616268

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

KAT6A was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review