Anophthalmia or microphthalmia
Gene: KMT2DEnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment 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.
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- microphthalmia
- Kabuki syndrome 1, 147920
- OMIM
- 602113
- Clinvar variants
- Variants in KMT2D
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intestinal failure or congenital diarrhoea
- Clefting
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Osteogenesis imperfecta
- Fetal hydrops
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Anophthalmia or microphthalmia
- Kabuki syndrome
- Intellectual disability
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: kmt2d has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KMT2D were changed from microphthalmia to microphthalmia; Kabuki syndrome 1, 147920
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KMT2D were set to PMID: 26049589; 27530281
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)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