Ataxia and cerebellar anomalies - narrow panel
Gene: SPR
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 19 Apr 2021, 1:01 p.m. | Last Modified: 19 Apr 2021, 1:01 p.m.
Panel Version: 2.116
Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.
Sources: Expert listCreated: 13 Sep 2020, 6:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: SPR.
Source Expert Review Green was added to SPR. Source NHS GMS was added to SPR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: spr has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SPR.
Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
gene: SPR was added gene: SPR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Review for gene: SPR was set to GREEN gene: SPR was marked as current diagnostic