Fetal hydrops

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)

There are reports of hydrops fetalis in Kabuki syndrome.
Sources: Expert list
Created: 30 Dec 2019, 6:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome

Publications

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

History Filter Activity

30 Dec 2019, 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 Fetal hydrops. Sources: Expert list Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 30293990; 27568880; 15690368 Phenotypes for gene: KMT2D were set to Kabuki syndrome Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic