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Hereditary Spastic Paraplegia - paediatric v1.90 AP5Z1 Bryony Thompson Classified gene: AP5Z1 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.90 AP5Z1 Bryony Thompson Gene: ap5z1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.89 AP5Z1 Bryony Thompson reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39059408, 26085577, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Spastic Paraplegia - paediatric v0.93 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Hereditary Spastic Paraplegia - paediatric v0.93 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.93 AP5Z1 Zornitza Stark Classified gene: AP5Z1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - paediatric v0.93 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.92 AP5Z1 Zornitza Stark gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577
Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive, MIM# 613647
Review for gene: AP5Z1 was set to AMBER
Added comment: Onset is generally in adulthood though at least one individual with childhood onset reported.
Sources: Expert list