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| Mendeliome v0.10608 | INPP5K | Zornitza Stark Marked gene: INPP5K as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10608 | INPP5K | Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10608 | INPP5K | Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10607 | INPP5K | Zornitza Stark Publications for gene: INPP5K were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10606 | INPP5K | Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10573 | INPP5K |
Ain Roesley changed review comment from: At least 20 probands reported thus far. Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder; to: At least 20 probands reported thus far. Noted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founder |
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| Mendeliome v0.10573 | INPP5K |
Ain Roesley changed review comment from: At least 20 probands reported thus far. Noted that Val23Met is an Italian founder mutation; to: At least 20 probands reported thus far. Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder |
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| Mendeliome v0.10573 | INPP5K | Ain Roesley reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5K was set to Unknown |
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