Submission Details


intellectual disability, autosomal dominant 52
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
The ASH1L gene is located on chromosome 1 at 1q22 and encodes the ASH1 like histone lysine methyltransferase protein, which is responsible for methylating Lys-36 of histone H3. ASH1L was first reported in relation to autosomal dominant ASH1L-related intellectual disability in 2012 (23033978: de Ligt et al. 2012). At least six unique de novo variants have been reported, including missense, frameshift, stop-gained variants. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in three publications (23033978: de Ligt et al. 2012; 28191889: Stessman et al. 2017; 29276005: Faundes et al. 2018). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease association is supported by somewhat limited experimental evidence, including expression of ASH1a in the zebrafish brain and during early epiphysial neurogenesis and a null zebrafish model that demonstrates importance of ASH1a in neurogenesis in zebrafish (12702659: Cau and Wilson 2003). In summary, there is strong evidence to support the relationship between ASH1L and autosomal dominant ASH1L-related intellectual disability.
PubMed IDs:
23033978 28191889 29276005 12702659
Assertion Criteria:
Submitter Submitted Date:

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