Anophthalmia or microphthalmia
Gene: KMT2DComment on list classification: Added to the panel as a Green gene. KMT2D is associated to a phenotype in both OMIM and Gene2Phenotype. There is sufficient evidence to support gene-disease phenotype for this gene and the Clinical team at Genomics England agrees that this gene is relevant for this panel.Created: 18 Jun 2019, 3:39 p.m.
One Irish male reported with a de novo KMT2D variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281).
Sources: LiteratureCreated: 8 May 2019, 4:06 p.m. | Last Modified: 23 Feb 2020, 9:25 p.m.
Panel Version: 1.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
microphthalmia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: kmt2d has been classified as Green List (High Evidence).
Phenotypes for gene: KMT2D were changed from microphthalmia to microphthalmia; Kabuki syndrome 1, 147920
Publications for gene: KMT2D were set to PMID: 26049589; 27530281
gene: KMT2D was added gene: KMT2D was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to PMID: 26049589; 27530281 Phenotypes for gene: KMT2D were set to microphthalmia Penetrance for gene: KMT2D were set to Complete Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic