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  3. ASXL2
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Hydrocephalus

Gene: ASXL2

Red List (low evidence)
ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

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: 19 Dec 2017, 4:49 p.m.

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

Phenotypes
Shashi-Pena syndrome 617190

Publications

Created: 19 Dec 2017, 4:49 p.m.

Panel version: 1.14

Details

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

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ASXL2.

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ASXL2 was added to Hydrocephalus panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ASXL2 was created by Sarah Leigh