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| Deafness_IsolatedAndComplex v1.3 | DMXL2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.2 | DMXL2 | Zornitza Stark reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 71, MIM#617605, Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.387 | DMXL2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.386 | DMXL2 | Chern Lim reviewed gene: DMXL2: Rating: ; Mode of pathogenicity: None; Publications: 30732576, 27657680; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM#618663, Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.112 | DMXL2 | Zornitza Stark Marked gene: DMXL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.112 | DMXL2 | Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.112 | DMXL2 | Zornitza Stark Classified gene: DMXL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.112 | DMXL2 | Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.55 | DMXL2 |
Lilian Downie changed review comment from: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families. Sources: Expert list; to: 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 |
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| Deafness_IsolatedAndComplex v0.55 | DMXL2 | Lilian Downie edited their review of gene: DMXL2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.55 | DMXL2 |
Lilian Downie 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 Added comment: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families. Sources: Expert list |
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