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Adult onset dystonia, chorea or related movement disorder v5.5 SPR Achchuthan Shanmugasundram Tag Q1_25_ MOI was removed from gene: SPR.
Tag Q1_25_ demote_red was removed from gene: SPR.
Tag Q1_25_ expert_review was removed from gene: SPR.
Adult onset dystonia, chorea or related movement disorder v5.5 SPR Achchuthan Shanmugasundram reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v5.4 SPR Achchuthan Shanmugasundram Source Expert Review Red was added to SPR.
Mode of inheritance for gene SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v4.6 SPR Arina Puzriakova Tag Q1_25_ MOI tag was added to gene: SPR.
Tag watchlist_moi tag was added to gene: SPR.
Adult onset dystonia, chorea or related movement disorder v4.6 SPR Arina Puzriakova Added comment: Comment on mode of inheritance: Sepiapterin reductase deficiency typically follows an autosomal recessive pattern of inheritance. Two cases with different heterozygous variants have been reported (PMID: 29147684, 15241655) although with reduced penetrance in the familial cases and mild form of the disorder in the singleton.

Overall additional evidence is required to conclusively make an association with monoallelic variants and therefore suggesting the MOI is also changed from 'Both mono- and biallelic' to 'Biallelic', with a watchlist_moi tag to monitor for more dominant cases.
Adult onset dystonia, chorea or related movement disorder v4.6 SPR Arina Puzriakova Mode of inheritance for gene: SPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v4.5 SPR Arina Puzriakova Tag Q1_25_ demote_red tag was added to gene: SPR.
Tag Q1_25_ expert_review tag was added to gene: SPR.
Adult onset dystonia, chorea or related movement disorder v4.5 SPR Arina Puzriakova reviewed gene: SPR: Rating: ; Mode of pathogenicity: None; Publications: 26131547; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716; Mode of inheritance: None
Adult onset dystonia, chorea or related movement disorder v1.89 SPR Arina Puzriakova Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Adult onset dystonia, chorea or related movement disorder v1.88 SPR Arina Puzriakova Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Adult onset dystonia, chorea or related movement disorder v0.54 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SPR James Polke reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 SPR Louise Daugherty Source NHS GMS was added to SPR.
Adult onset dystonia, chorea or related movement disorder v0.51 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset dystonia, chorea or related movement disorder v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716