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| Mendeliome v1.2876 | PLEKHN1 | Zornitza Stark Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2864 | PLEKHN1 | Lucy Spencer reviewed gene: PLEKHN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Marked gene: PLEKHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 |
Zornitza Stark gene: PLEKHN1 was added gene: PLEKHN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHN1 were set to 33884296 Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy Review for gene: PLEKHN1 was set to RED Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation Sources: Literature |
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