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Autism

Gene: ASH1L

Green List (high evidence)
ASH1L (ASH1 like histone lysine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116539
EnsemblGeneIds (GRCh37): ENSG00000116539
OMIM: 607999, Gene2Phenotype
ASH1L is in 3 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/ASH1LThe 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 : 8 / 12
Created: 1 Apr 2019, 11:26 a.m.
Created: 1 Apr 2019, 11:26 a.m.

Panel version: 0.11

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • ID, EPS, DD/NDD, ASD
OMIM
607999
Clinvar variants
Variants in ASH1L
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 ASH1L were changed from 28394464; 28191889; 26325558; 25363768; 25363760; 27824329; 24267886; 26401017 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 ID, EPS, DD/NDD, ASD for gene: ASH1L

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ASH1L were changed from to 28394464; 28191889; 26325558; 25363768; 25363760; 27824329; 24267886; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ASH1L. 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: ASH1L was added gene: ASH1L was added to Autism. Sources: SFARI Mode of inheritance for gene: ASH1L was set to