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Deafness_IsolatedAndComplex

Gene: DMXL2

Green List (high evidence)

DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 8 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

RED for AD deafness, GREEN for AR in context of complex disorder.
Created: 8 Oct 2020, 10 p.m. | Last Modified: 8 Oct 2020, 10 p.m.
Panel Version: 1.2

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 71, MIM#617605; Epileptic encephalopathy, early infantile, 81, MIM# 618663

Chern Lim (Victorian Clinical Genetics Services)

There's still no convincing evidence for AD inheritance:

- Chen 2017 (PMID:27657680): A heterozygous missense segregated with (AD) non-syndromic hearing loss in one Chinese family with multiple affected individuals. However, there are 9 heterozygotes in gnomADv2 for the missense variant. Authors only did functional studies in mouse and showed the gene is expressed in mouse cochlea. There were no variant-specific functional studies.


- Costain 2019 (PMID:30732576): Reported 3 patients with DD/ID or ASD, each patients were heterozygous for an intragenic loss of DMXL2 (inh not determined), an NMD-predicted SNV (maternally inherited) or a canonical splice variant (paternally inherited). No functional studies.
Created: 9 Sep 2020, 1:56 a.m. | Last Modified: 9 Sep 2020, 1:56 a.m.
Panel Version: 0.386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 81, MIM#618663, Autosomal recessive

Publications

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). As a dominant cause of non syndromic deafness this gene is RED. Single paper with AR phenotype in 3 unrelated families - for the AR phenotype is GREEN.
Sources: Expert list
Created: 31 Dec 2019, 12:49 a.m. | Last Modified: 31 Dec 2019, 12:51 a.m.
Panel Version: 0.55

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autosomal dominant hearing loss; autosomal recessive EE with deafness

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 71, MIM#617605
  • Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness
OMIM
612186
Clinvar variants
Variants in DMXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness to Deafness, autosomal dominant 71, MIM#617605; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness

9 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; autosomal recessive EE with deafness to Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmxl2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmxl2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: DMXL2 was added gene: DMXL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DMXL2 were set to 27657680; 22875945; 31688942 Phenotypes for gene: DMXL2 were set to Autosomal dominant hearing loss; autosomal recessive EE with deafness Review for gene: DMXL2 was set to RED