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Intellectual disability syndromic and non-syndromic

Gene: KDM6A

Green List (high evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Affected individuals with Kabuki Syndrome present with a range of symptoms including ID/DD.

Classified as Definitive by SCID-CID GCEP on 26/07/2021 - https://search.clinicalgenome.org/CCID:005222
Created: 21 Oct 2024, 4:33 a.m. | Last Modified: 21 Oct 2024, 4:33 a.m.
Panel Version: 0.6528

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Kabuki syndrome 2 MONDO:0010465

Publications

History Filter Activity

22 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm6a has been classified as Green List (High Evidence).

22 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2 MONDO:0010465

22 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KDM6A were set to

22 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDM6A was added gene: KDM6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM6A was set to Unknown