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Autism

Gene: KMT2C

Amber List (moderate evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/KMT2C Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Amber
  • SFARI
OMIM
606833
Clinvar variants
Variants in KMT2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KMT2C were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to KMT2C. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KMT2C was added gene: KMT2C was added to Autism. Sources: SFARI Mode of inheritance for gene: KMT2C was set to