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  3. KAT6A
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Cerebral Palsy

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

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional individual with monoallelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 6:12 a.m. | Last Modified: 27 May 2024, 6:12 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arboleda-Tham syndrome MIM#616268

Publications

Created: 27 May 2024, 6:12 a.m.
Last Modified: 27 May 2024, 6:12 a.m.
Panel version: 1.193

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Several cases in a large CP cohort study with Loss of function mutations in KAT6A, all mutations confrimed de novo
Sources: Literature
Created: 8 Jun 2023, 2:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arboleda-Tham syndrome MIM#616268

Publications

Created: 8 Jun 2023, 2:43 a.m.

Panel version: 1.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Arboleda-Tham syndrome MIM#616268
OMIM
601408
Clinvar variants
Variants in KAT6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jun 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: KAT6A was added gene: KAT6A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 33528536 Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268 Review for gene: KAT6A was set to GREEN