Craniosynostosis

Gene: KAT6B

Red List (low evidence)

KAT6B (lysine acetyltransferase 6B)
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 8 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Bashir et al 2017 report 2 cases with Lin-Gettig syndrome phenotype with sagittal CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
KAT6B-related disorders

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: KAT6B; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes KAT6B-related disorders for gene: KAT6B

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: KAT6B was added gene: KAT6B was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: KAT6B was set to