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Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.

Clinical course is characterised by progressive neurological deterioration and seizures.
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Lysosomal Storage Disorder v0.179 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Lysosomal Storage Disorder v0.178 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.177 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP1 was set to Unknown