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| BabyScreen+ newborn screening v1.114 | TPP1 |
Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) for gene: TPP1 Publications for gene TPP1 were updated from 32684372; 31884868; 30470609; 33882967 to 31884868; 33882967; 32684372; 30470609 |
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| BabyScreen+ newborn screening v0.1675 | TPP1 | John Christodoulou reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30783219, PMID: 32280231; Phenotypes: neruodegeneration, seizures, loss of vision, loss of language; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1138 | TPP1 |
Zornitza Stark Tag for review tag was added to gene: TPP1. Tag treatable tag was added to gene: TPP1. Tag metabolic tag was added to gene: TPP1. |
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| BabyScreen+ newborn screening v0.1135 | TPP1 | Zornitza Stark Marked gene: TPP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1135 | TPP1 | Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1135 | TPP1 | Zornitza Stark Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1134 | TPP1 | Zornitza Stark Publications for gene: TPP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1121 | TPP1 | Lilian Downie reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32684372, PMID: 31884868, PMID: 30470609, PMID: 33882967; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis |
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