Ataxia and cerebellar anomalies - narrow panel
Gene: DMXL2EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
2 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, 4:44 p.m. | Last Modified: 3 Jul 2023, 4:44 p.m.
Panel Version: 4.16
Dmitrijs Rots (Children's Clinical University Hospital)
No association with ataxia; only proven amber for hearing loss which has nothing to do with ataxia.Created: 8 Jan 2023, 3:27 p.m. | Last Modified: 8 Jan 2023, 3:27 p.m.
Panel Version: 3.21
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
- OMIM
- 612186
- Clinvar variants
- Variants in DMXL2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic hearing loss
- Hereditary ataxia
- Early onset or syndromic epilepsy
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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dmxl2 has been classified as Red List (Low Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DMXL2 was added gene: DMXL2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680 Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186