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Structural eye disease

Gene: KDM6A

Amber List (moderate evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 18 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Hinds reported case with coloboma and a microdeletion including KDM6A, but also NDP and CASK. Moccia reported infant with CHARGE-like phenotype with missense variant inherited from the unaffected mother. KMT2D+ Kabuki syndrome is associated with structural eye disease
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91


Variants in this GENE are reported as part of current diagnostic practice

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Kabuki Syndrome 2, KABUK2

History Filter Activity

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KDM6A. Publications for gene KDM6A were changed from to 29617172; 29300383

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to KDM6A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: KDM6A was added gene: KDM6A was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to Kabuki Syndrome 2, KABUK2, 300867