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| Pain syndromes v0.36 | PLEKHN1 | Zornitza Stark Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.35 | PLEKHN1 | Zornitza Stark edited their review of gene: PLEKHN1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.35 | PLEKHN1 | Zornitza Stark reviewed gene: PLEKHN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.28 | PLEKHN1 | Zornitza Stark Marked gene: PLEKHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.28 | PLEKHN1 | Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.28 | PLEKHN1 |
Seb Lunke gene: PLEKHN1 was added gene: PLEKHN1 was added to Pain syndromes. 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 Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation Sources: Literature |
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