Clefting
Gene: KAT6A

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Causation is clear. De novo mutations. Clefting only reported in one case to date however others have related craniofacial anomalies including micro-retrognathia. Borderline but include
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MRD32

OMIM

601408

Clinvar variants

Variants in KAT6A

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KAT6A was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created