Structural eye disease

Gene: KMT2D

Green List (high evidence)

RH 1. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. McVeigh et al Clin Dysmorphol. 2015 Oct;24(4):135-9 - proband has Kabuki, micrphthalmia and a de novo variant in KMT2D. 2. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Bgershausen et al Am J Med Genet A. 2016 Dec;170(12):3282-3288. Identify a novel frameshift in a Kabuki patient with bilateral microphthalmia. Can't access the paper, so don't know about the inheritance. DON'T THINK THIS MEETS THE CRITERIA FOR GREEN, ALTHOUGH I THINK IT WOULD BE WORTHY OF AMBER. 3. Plaisancie et al. describes a case in our cohort with a BMP4 variant which has now been classified as VUS, this case with bilateral microphthalmia has a de novo frameshift variant in KMT2D and features of Kabuki syndrome.

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1 (can include coloboma); 147920; add review paper

Green List (high evidence)

Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.

Created: 24 Apr 2019, 1:50 p.m.

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. McVeigh et al Clin Dysmorphol. 2015 Oct;24(4):135-9 - proband has Kabuki, micrphthalmia and a de novo variant in KMT2D. 2. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Bgershausen et al Am J Med Genet A. 2016 Dec;170(12):3282-3288. Identify a novel frameshift in a Kabuki patient with bilateral microphthalmia. Can't access the paper, so don't know about the inheritance. DON'T THINK THIS MEETS THE CRITERIA FOR GREEN, ALTHOUGH I THINK IT WOULD BE WORTHY OF AMBER. 3. Plaisancie et al. describes a case in our cohort with a BMP4 variant which has now been classified as VUS, this case with bilateral microphthalmia has a de novo frameshift variant in KMT2D and features of Kabuki syndrome.

Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1 (can include coloboma); 147920; add review paper

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