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Intellectual disability update Jan 2018

Gene: KMT2C

Green List (high evidence)
KMT2C (lysine methyltransferase 2C)
EnsemblGeneIds (GRCh38): ENSG00000055609
EnsemblGeneIds (GRCh37): ENSG00000055609
OMIM: 606833, Gene2Phenotype
KMT2C is in 3 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype.
Created: 8 Mar 2018, 2:21 p.m.
Created: 8 Mar 2018, 2:21 p.m.

Panel version: 0.447

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM this gene is associated with OMIM - Kleefstra syndrome 2 617768. Kleefstra et al. (2012) (PMID:22726846) report case of 1 family with individual with nonsense mutation in MLL3 (now called KMT2C) and intellectual disability. Koemans et al 2017 (PMID:29069077) report 5 cases with SNVs in KMT2C, 2 with mild, 2 moderate and 1 severe ID. They also report that knockdown of the Drosophila ortholog of KMT2C results in the misregulation of an overlapping set of genes to the ortholog of EHMT1 also implicated in ID. Faundes et al 2018 (PMID:29276005) reports 3 more cases of individuals with SNVs in KMT2C and severe ID.
Created: 7 Mar 2018, 3:15 p.m.
EW currently reviewing this gene
Created: 7 Mar 2018, 1:51 p.m.
Created: 7 Mar 2018, 1:51 p.m.

Panel version: 0.402

Details

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

History Filter Activity

8 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for KMT2C were set to Kleefstra syndrome 2 617768

7 Mar 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

7 Mar 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for KMT2C were set to 22726846; 29069077; 29276005

7 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KMT2C was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

KMT2C was created by Ellen McDonagh