Gene Symbol:
ASH1L
HGNC:19088
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q22
Filters:

ClinGen classifications

syndromic complex neurodevelopmental disorder
AD
02/23/2023
Evaluated
10/18/2023
Submitted

Illumina classifications

intellectual disability, autosomal dominant 52
AD
09/05/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The ASH1L gene is located on chromosome 1 at 1q22 and encodes the ASH1 like histone lysine methyltra... Read more

Invitae classifications

intellectual disability, autosomal dominant 52
Submitted as: OMIM:617796
AD
07/06/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

intellectual disability, autosomal dominant 40
Submitted as: OMIM:616579
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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