This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: DMXL2
DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 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/6237Created: 19 Apr 2017, 2:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Amber
- Other
- Phenotypes
-
- Sensorineural Hearing Loss
- ORPHA90636
- OMIM:612186
- OMIM
- 612186
- Clinvar variants
- Variants in DMXL2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Monogenic diabetes
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
20 Jun 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)DMXL2 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
19 Apr 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).
19 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DMXL2 was created by ellenmcdonagh
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DMXL2 was added to ClinGen Gene Validity Curationspanel. Sources: Other