Diabetes with additional phenotypes suggestive of a monogenic aetiology

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)

Comment on list classification: Rated amber to reflect the moderate evidence as assessed by the ClinGen group.
Created: 25 Jul 2017, 8:38 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: 25 Jul 2017, 8:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sensorineural Hearing Loss; ORPHA90636; OMIM:612186

Publications

History Filter Activity

25 Jul 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DMXL2 were set to 27657680; 22875945;25248098

25 Jul 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).

25 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMXL2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Other

25 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DMXL2 was created by ellenmcdonagh