Syndromic Retinopathy
Gene: TPP1
Retinal degeneration is part of the phenotype.
Sources: Expert ReviewCreated: 9 Oct 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
These phenotypes can be considered part of the same phenotypic spectrum which goes from classic late infantile CLN2 to forms of atypical CLN2 disease, including SCAR7 (PMID: 31283065).Created: 4 Aug 2020, 7:50 a.m. | Last Modified: 4 Aug 2020, 7:50 a.m.
Panel Version: 0.3684
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2 204500; Spinocerebellar ataxia, autosomal recessive 7 609270
Publications
Gene: tpp1 has been classified as Green List (High Evidence).
Gene: tpp1 has been classified as Green List (High Evidence).
gene: TPP1 was added gene: TPP1 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Review for gene: TPP1 was set to GREEN