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Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Marked gene: NIPA1 as ready
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Classified gene: NIPA1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.271 NIPA1 Bryony Thompson edited their review of gene: NIPA1: Added comment: Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.; Changed rating: GREEN; Changed publications: 34863451
Hereditary Neuropathy - complex v0.271 NIPA1 Bryony Thompson Deleted their comment
Hereditary Neuropathy - complex v0.13 NIPA1 Bryony Thompson reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 21419568
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6