Fetal hydrops

Gene: KMT2D

Green List (high evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There are sufficient unrelated cases with prenatal hydrops and variants in this gene to rate as Green on this panel. KMT2D is also already Green on the GMS Fetal anomalies (R21) panel.
Created: 14 Sep 2021, 3:08 p.m. | Last Modified: 14 Sep 2021, 3:08 p.m.
Panel Version: 1.35

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

14 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kmt2d has been classified as Green List (High Evidence).

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