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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

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Additional recent publication of bi-allelic variants causing EE with deafness in three unrelated families. Agree the evidence is limited for the dominant deafness phenotype, but difficult to know whether to include the recessive phenotype in a 'non-syndromic HL' panel.
Created: 2 Jan 2020, 4:04 a.m. | Last Modified: 2 Jan 2020, 4:04 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy with deafness

Publications

Variants in this GENE are reported as part of current diagnostic practice

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