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Childhood onset dystonia, chorea or related movement disorder v2.10 PNPT1 Eleanor Williams Tag Q1_22_rating was removed from gene: PNPT1.
Childhood onset dystonia, chorea or related movement disorder v2.10 PNPT1 Eleanor Williams reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.8 PNPT1 Eleanor Williams Source Expert Review Green was added to PNPT1.
Source NHS GMS was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.225 PNPT1 Arina Puzriakova edited their review of gene: PNPT1: Changed rating: GREEN
Childhood onset dystonia, chorea or related movement disorder v1.225 PNPT1 Arina Puzriakova Publications for gene: PNPT1 were set to 23084291; 33199448
Childhood onset dystonia, chorea or related movement disorder v1.224 PNPT1 Arina Puzriakova Classified gene: PNPT1 as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.224 PNPT1 Arina Puzriakova Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.223 PNPT1 Arina Puzriakova Publications for gene: PNPT1 were set to
Childhood onset dystonia, chorea or related movement disorder v1.222 PNPT1 Arina Puzriakova Tag Q1_22_rating tag was added to gene: PNPT1.
Childhood onset dystonia, chorea or related movement disorder v1.222 PNPT1 Arina Puzriakova reviewed gene: PNPT1: Rating: ; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.222 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, 614932 to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Dystonia
Childhood onset dystonia, chorea or related movement disorder v0.1 PNPT1 Ellen McDonagh Source South West GLH was added to PNPT1.
Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1
Childhood onset dystonia, chorea or related movement disorder v0.0 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XPNPEP3 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPO was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNP was set to