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  3. KAT6A
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Craniosynostosis

Gene: KAT6A

Green List (high evidence)
KAT6A (lysine acetyltransferase 6A)
EnsemblGeneIds (GRCh38): ENSG00000083168
EnsemblGeneIds (GRCh37): ENSG00000083168
OMIM: 601408, Gene2Phenotype
KAT6A is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arboleda-Tham syndrome, MIM#616268

Created: 23 Oct 2020, 5:06 a.m.
Last Modified: 23 Oct 2020, 5:06 a.m.
Panel version: 1.2

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Low frequency association of craniosynostosis in Arboleda-Tham syndrome. Six individuals reported in two publications.
Sources: Literature
Created: 16 Jun 2020, 11:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arboleda-Tham syndrome

Publications

Created: 16 Jun 2020, 11:50 a.m.

Panel version: 0.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome, MIM#616268
OMIM
601408
Clinvar variants
Variants in KAT6A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KAT6A were set to 30245513; 25728777

23 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KAT6A were changed from Arboleda-Tham syndrome to Arboleda-Tham syndrome, MIM#616268

16 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: kat6a has been classified as Green List (High Evidence).

16 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: kat6a has been classified as Green List (High Evidence).

16 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: kat6a has been classified as Red List (Low Evidence).

16 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tiong Tan (Victorian Clinical Genetics Services)

gene: KAT6A was added gene: KAT6A was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 30245513; 25728777 Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome Penetrance for gene: KAT6A were set to Complete Review for gene: KAT6A was set to GREEN