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| Deafness_Isolated v1.22 | MVD |
Paul De Fazio gene: MVD was added gene: MVD was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: MVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVD were set to 34135477 Phenotypes for gene: MVD were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Review for gene: MVD was set to RED gene: MVD was marked as current diagnostic Added comment: Homozygous missense variant p.(Pro379His) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was heterozygous for the variant. Variant is in gnomad (1 het, 0 hom). RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). Sources: Literature |
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| Deafness_Isolated v1.22 | MPDZ | Alison Yeung Marked gene: MPDZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.22 | MPDZ | Alison Yeung Gene: mpdz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.22 | MPDZ | Alison Yeung Classified gene: MPDZ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.22 | MPDZ | Alison Yeung Added comment: Comment on list classification: Single affected family, no functional studies on variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.22 | MPDZ | Alison Yeung Gene: mpdz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.19 | MPDZ |
Paul De Fazio gene: MPDZ was added gene: MPDZ was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 34135477; 29026089 Phenotypes for gene: MPDZ were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Review for gene: MPDZ was set to AMBER gene: MPDZ was marked as current diagnostic Added comment: Homozygous missense variant p.(Pro775Leu) identified in 2 affected siblings from a single consanguineous Pakistani family by WES. A third unaffected sibling was homozygous wild type. Variant is in gnomad (8 hets, 0 hom). RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). A mouse model has increased threshold for auditory brainstem response. Sources: Literature |
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