ClinGen Gene Validity Curations

Gene: DMXL2

Amber List (moderate evidence)

DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 12 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as MODERATE by calculated classification (dated: 12/19/2016) and MODERATE by Expert curation, Reviewed by the ClinGen Hearing Loss Working Group (dated 02/06/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/6237
Created: 19 Apr 2017, 2:12 p.m.

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

History Filter Activity

20 Jun 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DMXL2 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DMXL2 was created by ellenmcdonagh

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMXL2 was added to ClinGen Gene Validity Curationspanel. Sources: Other