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  3. KMT2D
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Intellectual disability syndromic and non-syndromic

Gene: KMT2D

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome

Created: 4 Jun 2020, 2:19 a.m.
Last Modified: 4 Jun 2020, 2:19 a.m.
Panel version: 0.2670

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: 0.2663

History Filter Activity

4 Jun 2020, 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).

4 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KMT2D were set to

4 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KMT2D was added gene: KMT2D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2D was set to Unknown