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Ataxia v2.219 TECPR2 Bryony Thompson Marked gene: TECPR2 as ready
Ataxia v2.219 TECPR2 Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence).
Ataxia v2.219 TECPR2 Bryony Thompson Classified gene: TECPR2 as Green List (high evidence)
Ataxia v2.219 TECPR2 Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence).
Ataxia v2.218 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 35130874; 34994087; 33847017
Phenotypes for gene: TECPR2 were set to hereditary spastic paraplegia 49, MONDO:0014016
Review for gene: TECPR2 was set to GREEN
Added comment: Biallelic loss-of-function TECPR2 variants present with hereditary spastic paraplegia. Core features include progressive ataxia, hypotonia, hyporeflexia, autonomic dysregulation and respiratory failure.
Sources: Literature