Hereditary ataxia
Gene: DMXL2EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Dmitrijs Rots (Children's Clinical University Hospital)
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
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, 8:35 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
- OMIM
- 612186
- Clinvar variants
- Variants in DMXL2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Hereditary ataxia
- Adult onset neurodegenerative disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DMXL2 were set to 27657680; 22875945; 25248098
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome , OMIM:616113 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome , OMIM:616113
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dmxl2 has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DMXL2 were set to 27657680; 22875945;25248098
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DMXL2 was added to Hereditary ataxiapanel. Sources: Other
Created
Ellen McDonagh (Genomics England Curator)DMXL2 was created by ellenmcdonagh