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Intellectual disability

Gene: ASXL2

Green List (high evidence)

ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 7 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:50 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Shashi-Pena syndrome 617190

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Shashi-Pena syndrome 617190
OMIM
612991
Clinvar variants
Variants in ASXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ASXL2.

12 Mar 2018, Gel status: 4

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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ASXL2 was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

ASXL2 was created by Ellen McDonagh