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  3. KMT2D
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Fetal anomalies

Gene: KMT2D

Green List (high evidence)
KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 23 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple congenital anomalies syndrome.
Created: 20 Jun 2021, 9:49 a.m. | Last Modified: 13 Jan 2022, 6:42 a.m.
Panel Version: 0.2041

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1, MIM# 147920

Publications

Created: 20 Jun 2021, 9:49 a.m.
Last Modified: 13 Jan 2022, 6:42 a.m.
Panel version: Imported from Congenital diaphragmatic hernia panel version 0.55

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
- 7 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Created: 3 Jun 2020, 11:40 p.m. | Last Modified: 3 Jun 2020, 11:41 p.m.
Panel Version: 0.2663

Publications

Created: 3 Jun 2020, 11:40 p.m.
Last Modified: 3 Jun 2020, 11:41 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2663

George McGillivray (Victorian Clinical Genetics Services)

Green List (high evidence)

In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D.
Sources: Expert list
Created: 30 Dec 2019, 6:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome

Publications

Created: 30 Dec 2019, 6:31 a.m.

Panel version: Imported from Hydrops fetalis panel version 0.73

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KMT2D were changed from KABUKI SYNDROME to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KMT2D were set to

13 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KMT2D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KMT2D was added gene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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