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Childhood onset hereditary spastic paraplegia v3.9 KPNA3 Mafalda Gomes Tag Q3_22_rating was removed from gene: KPNA3.
Childhood onset hereditary spastic paraplegia v3.9 KPNA3 Mafalda Gomes commented on gene: KPNA3
Childhood onset hereditary spastic paraplegia v3.8 KPNA3 Mafalda Gomes Source Expert Review Green was added to KPNA3.
Source NHS GMS was added to KPNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Classified gene: KPNA3 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommendation of GREEN rating following GMS review.
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Gene: kpna3 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Tag Q3_21_rating was removed from gene: KPNA3.
Tag Q3_22_rating tag was added to gene: KPNA3.
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Tag Q3_21_rating tag was added to gene: KPNA3.
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Phenotypes for gene: KPNA3 were changed from Infantile onset spastic paraplegia; developmental delay to autosomal dominant pure spastic paraplegia, MONDO:0015088
Childhood onset hereditary spastic paraplegia v2.142 KPNA3 Eleanor Williams Publications for gene: KPNA3 were set to PMID: 34564892
Childhood onset hereditary spastic paraplegia v2.141 KPNA3 Eleanor Williams Mode of inheritance for gene: KPNA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.140 KPNA3 Eleanor Williams reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34564892; Phenotypes: autosomal dominant pure spastic paraplegia, MONDO:0015088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.84 KPNA3 Dmitrijs Rots gene: KPNA3 was added
gene: KPNA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to PMID: 34564892
Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay
Penetrance for gene: KPNA3 were set to unknown
Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KPNA3 was set to GREEN
Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature