Structural eye disease
Gene: KDM6A
PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.
Skewed X-inactivation has also been reported at this locus (PMID: 22197486, 23913813).Created: 26 Oct 2023, 4:12 p.m. | Last Modified: 31 Oct 2023, 10:04 a.m.
Panel Version: 3.49
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 26 Oct 2023, 3:49 p.m. | Last Modified: 26 Oct 2023, 3:49 p.m.
Panel Version: 3.49
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
PMID: 36672956 reported a patient with coloboma, microphthalmia, short stature, developmental delay, with a nonsense mutation in KDM6A - c.4087C>T p.(R1363*)Created: 18 Sep 2023, 3:26 p.m. | Last Modified: 18 Sep 2023, 3:26 p.m.
Panel Version: 3.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki syndrome
Publications
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 diseaseCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Kabuki Syndrome 2, KABUK2
Tag Skewed X-inactivation tag was added to gene: KDM6A. Tag Q4_23_promote_green tag was added to gene: KDM6A. Tag Q4_23_NHS_review tag was added to gene: KDM6A.
Publications for gene: KDM6A were set to 22197486; 29617172; 29300383; 23076834; 24664873; 36672956
Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Publications for gene: KDM6A were set to 29617172; 29300383; 36672956
Phenotypes for gene: KDM6A were changed from Kabuki Syndrome 2, KABUK2, 300867 to Kabuki syndrome 2, OMIM:300867; Kabuki syndrome 2, MONDO:0010465
Publications for gene: KDM6A were set to 29617172; 29300383
Source NHS GMS was added to KDM6A. Publications for gene KDM6A were changed from to 29617172; 29300383
Source Expert Review Amber was added to KDM6A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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