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| Deafness_IsolatedAndComplex v1.5 | PLOD3 | Zornitza Stark Phenotypes for gene: PLOD3 were changed from Sensorineural deafness to Lysyl hydroxylase 3 deficiency, MIM# 612394; Sensorineural deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.4 | PLOD3 | Zornitza Stark reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM# 612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.329 | PLOD3 | Zornitza Stark Marked gene: PLOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.329 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.329 | PLOD3 | Zornitza Stark Classified gene: PLOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.329 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.328 | PLOD3 |
Lauren Akesson gene: PLOD3 was added gene: PLOD3 was added to Deafness. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 31129566 Phenotypes for gene: PLOD3 were set to Sensorineural deafness Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN Added comment: This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation. Sources: Literature |
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