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| Deafness_IsolatedAndComplex v0.159 | PPIP5K2 | Zornitza Stark Marked gene: PPIP5K2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.159 | PPIP5K2 | Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.159 | PPIP5K2 | Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.159 | PPIP5K2 | Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.158 | PPIP5K2 |
Zornitza Stark gene: PPIP5K2 was added gene: PPIP5K2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIP5K2 were set to 29590114 Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422 Review for gene: PPIP5K2 was set to AMBER Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model. Sources: Expert list |
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