Hereditary ataxia
Gene: DMXL2Comment on list classification: Downgraded from Amber to Red. Ataxia (onset in adolescence) has only been reported in one consanguineous family to date (PMID: 25248098) and this finding has not since been replicated. Therefore demoting the gene rating, inline with review by Dmitrijs Rots.Created: 3 Jul 2023, 4:43 p.m. | Last Modified: 3 Jul 2023, 4:43 p.m.
Panel Version: 1.322
No association with ataxia; below reviewer has provided papers for hearing loss which has nothing to do with ataxia.Created: 8 Jan 2023, 3:25 p.m. | Last Modified: 8 Jan 2023, 3:25 p.m.
Panel Version: 1.313
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
Phenotypes
Sensorineural Hearing Loss; ORPHA90636; OMIM:612186
Publications
Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 27657680; 22875945; 25248098
Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome , OMIM:616113 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome , OMIM:616113
Gene: dmxl2 has been classified as Red List (Low Evidence).
Publications for DMXL2 were set to 27657680; 22875945;25248098
This gene has been classified as Amber List (Moderate Evidence).
DMXL2 was added to Hereditary ataxiapanel. Sources: Other
DMXL2 was created by ellenmcdonagh