Intestinal failure or congenital diarrhoea
Gene: KMT2D

KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 21 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

KMT2D is also known as MLL2. Variants in KMT2D are reported in more than 100 families with Kabuki syndrome (see OMIM entry). Intestinal abnormalities do not appear to be a prominent feature, however the GeneReviews entry for Kabuki syndrome (PMID: 21882399) reports that chronic diarrhea from malabsorption and/or celiac disease may be seen rarely.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Kabuki syndrome 1, OMIM:147920

OMIM

602113

Clinvar variants

Variants in KMT2D

Penetrance

None

Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: KMT2D was added gene: KMT2D was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920

Intestinal failure or congenital diarrhoea Gene: KMT2D