Holoprosencephaly

Gene: KMT2D

Amber List (moderate 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 (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed in the absence of overtly obvious features of Kabuki syndrome. Sufficient to rate this gene as Green at the next GMS panel update.
Created: 14 Sep 2021, 3:02 p.m. | Last Modified: 14 Sep 2021, 3:02 p.m.
Panel Version: 2.20

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

14 Sep 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: KMT2D.

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kmt2d has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, OMIM:147920

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