Hereditary ataxiaGene: DMXL2
Comment on list classification: Rated amber to reflect the moderate evidence as assessed by the ClinGen group.
Created: 25 Jul 2017, 8:35 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, 8:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sensorineural Hearing Loss; ORPHA90636; OMIM:612186
Publications for DMXL2 were set to 27657680; 22875945;25248098
This gene has been classified as Amber List (Moderate Evidence).
DMXL2 was created by ellenmcdonagh
DMXL2 was added to Hereditary ataxiapanel. Sources: Other