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Intellectual disability

Gene: KMT2C

Green List (high evidence)

KMT2C (lysine methyltransferase 2C)
EnsemblGeneIds (GRCh38): ENSG00000055609
EnsemblGeneIds (GRCh37): ENSG00000055609
OMIM: 606833, Gene2Phenotype
KMT2C is in 4 panels

4 reviews

Helen Brittain (Genomics England Curator)

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

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.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Kleefstra syndrome 2, 617768
OMIM
606833
Clinvar variants
Variants in KMT2C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KMT2C.

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KMT2C were set to Kleefstra syndrome 2, 617768

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to KMT2C. Panel: Intellectual disability Model of inheritance for gene KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene KMT2C was set to ['22726846', '29069077', '29276005']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KMT2C was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KMT2C was created by ellenmcdonagh