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Hearing loss

Gene: DMXL2

Amber List (moderate evidence)

DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 12 panels

2 reviews

Anna de Burca (Genomics England Curator)

I don't know

Since reviewed by the ClinGen Hearing Loss Working Group in 2016, PMID:30237576 has reported a further case homozygous for a frameshift indel in DMXL2. The phenotype is described as GDD, epilepsy, macrocephaly, brain atrophy and dysmorphic facies, but hearing loss is not mentioned.
Created: 12 Feb 2019, 9:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyendocrine-polyneuropathy syndrome; Deafness, autosomal dominant 71

Publications

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, 8:29 a.m.
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, 8:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sensorineural Hearing Loss; ORPHA90636; OMIM:612186

Publications

History Filter Activity

25 Jul 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DMXL2 were set to 27657680; 22875945;25248098

25 Jul 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).

25 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMXL2 was added to Congenital hearing impairment (profound/severe)panel. Sources: Other

25 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DMXL2 was created by ellenmcdonagh