Activity
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9 actions
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| Childhood onset dystonia, chorea or related movement disorder v7.15 | SPR |
Achchuthan Shanmugasundram Tag Q1_25_ MOI was removed from gene: SPR. Tag watchlist_moi was removed from gene: SPR. |
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| Childhood onset dystonia, chorea or related movement disorder v7.15 | SPR | Achchuthan Shanmugasundram commented on gene: SPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.14 | SPR |
Achchuthan Shanmugasundram Source NHS GMS 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 |
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| Childhood onset dystonia, chorea or related movement disorder v6.7 | SPR |
Arina Puzriakova Tag Q1_25_ MOI tag was added to gene: SPR. Tag watchlist_moi tag was added to gene: SPR. |
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| Childhood onset dystonia, chorea or related movement disorder v6.7 | 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 changed from 'Both mono- and biallelic' to 'Biallelic' at the next GMS panel update, with a watchlist_moi tag to monitor for more dominant cases. |
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| Childhood onset dystonia, chorea or related movement disorder v6.7 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.6 | SPR | Arina Puzriakova Phenotypes for gene: SPR were changed from Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | SPR |
Ellen McDonagh Source PanelApp was added to SPR. Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | SPR |
Ellen McDonagh gene: SPR was added gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SPR was set to |
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