Deafness_IsolatedAndComplex
Gene: DMXL2
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
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
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 listCreated: 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
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
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
Gene: dmxl2 has been classified as Green List (High Evidence).
Gene: dmxl2 has been classified as Green List (High Evidence).
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