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Intellectual disability

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

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association
Created: 29 Jun 2018, 4:29 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 29 Jun 2018, 4:25 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note recent additional report plus also in 29276005
Created: 14 Jun 2018, 9:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Helen Brittain (Genomics England Curator)

Comment on list classification: In relation to ID, there has been identification of an enrichment of de novo variants in this gene leading to the authors to conclude "probable" causation. One paper found 3 cases with autism and LoF variants in this gene, but no clear evidence of ID. More evidence required to be confident of causation and the phenotype.
Created: 13 Nov 2017, 2:43 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
INTELLECTUAL DISABILITY

Publications

  • 0

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with phenotype in OMIM, but as a possible G2P. At least 4 truncating variants reported (3 in autistic cases and 1 in an intellectual disability case). >20 variants were reported in PMID 26350204, many of these are unlikely to be pathogenic based on in silico analysis.
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 52, 617796
  • intellectual disability
OMIM
607999
Clinvar variants
Variants in ASH1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jun 2019, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ASH1L were set to 25961944; 26350204; 29276005; 29753921

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ASH1L.

1 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, 617796; intellectual disability

29 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ash1l has been classified as Green List (High Evidence).

29 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ASH1L were set to Autism; intellectual disability and autistic features; MCA, intellectual disability, and behavioral problems

29 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ASH1L were set to 25961944; 26350204; 29276005; 29753921

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ASH1L was set to ['25961944', ' 26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ASH1L was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ASH1L was created by ellenmcdonagh