Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Autism

Gene: KMT2A

Green List (high evidence)

KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 6 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/KMT2A Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 5 / 17
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • EP, ASD, EPS, DD/NDD, ID
  • Wiedemann-Steiner syndrome
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KMT2A were changed from 28263302; 22795537; 27479843; 25533962; 25363768; 25363760; 27848944 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes EP, ASD, EPS, DD/NDD, ID; Wiedemann-Steiner syndrome for gene: KMT2A

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KMT2A were changed from to 28263302; 22795537; 27479843; 25533962; 25363768; 25363760; 27848944

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to KMT2A. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KMT2A was added gene: KMT2A was added to Autism. Sources: SFARI Mode of inheritance for gene: KMT2A was set to