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Mendeliome

Gene: KMT2C

Green List (high evidence)

KMT2C (lysine methyltransferase 2C)
EnsemblGeneIds (GRCh38): ENSG00000055609
EnsemblGeneIds (GRCh37): ENSG00000055609
OMIM: 606833, Gene2Phenotype
KMT2C is in 5 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only
Created: 6 Mar 2020, 2:39 a.m. | Last Modified: 6 Mar 2020, 2:39 a.m.
Panel Version: 0.1635

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Kleefstra syndrome 2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 2, MIM#617768
OMIM
606833
Clinvar variants
Variants in KMT2C
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2c has been classified as Green List (High Evidence).

6 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768

6 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KMT2C was added gene: KMT2C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KMT2C was set to Unknown