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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |