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  3. ASH1L
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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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes.
Sources: Expert list
Created: 23 Nov 2019, 8:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 52, MIM#617796

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Nov 2019, 8:16 a.m.

Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS panel version 0.2

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
607999
Clinvar variants
Variants in ASH1L
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASH1L was added gene: ASH1L was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASH1L was set to Unknown