Holoprosencephaly

Gene: KMT2D

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three case reports of HPE in Kabuki syndrome. Association also observed by us internally, PMID 32773771, supplementary info.
Sources: Literature
Created: 5 Oct 2020, 10:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1, MIM# 147920

Publications

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

History Filter Activity

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KMT2D was added gene: KMT2D was added to Holoprosencephaly. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31846209; 31282990; 32773771 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic