Structural eye disease

Gene: KDM6A

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

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

Green List (high evidence)

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)

Green List (high evidence)

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

• 36672956

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

Publications

• 29617172
• 29300383

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

Green List (high evidence)

Phenotypes
Kabuki Syndrome 2, KABUK2