Structural eye disease
Gene: KMT2D
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
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
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 (can include coloboma), 147920 to Kabuki syndrome 1, OMIM:147920; Coloboma; Microphthalmia
Publications for gene: KMT2D were set to
Gene: kmt2d has been classified as Green List (High Evidence).
Gene: kmt2d has been classified as Amber List (Moderate Evidence).
gene: KMT2D was added gene: KMT2D was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 (can include coloboma), 147920