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Intellectual disability syndromic and non-syndromic

Gene: KAT6A

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 05/10/2021 - https://search.clinicalgenome.org/CCID:005173

ID is a feature in reported individuals. Mechanism of disease is LoF.
Created: 14 May 2024, 6:15 a.m. | Last Modified: 14 May 2024, 6:15 a.m.
Panel Version: 0.5821

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
syndromic intellectual disability MONDO:0000508

Publications

  • https://search.clinicalgenome.org/CCID:005173

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • syndromic intellectual disability MONDO:0000508
OMIM
601408
Clinvar variants
Variants in KAT6A
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:005173
Panels with this gene

History Filter Activity

15 Nov 2024, 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).

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KAT6A were changed from to syndromic intellectual disability MONDO:0000508

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KAT6A were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KAT6A was added gene: KAT6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT6A was set to Unknown