Ataxia and cerebellar anomalies - narrow panel
Gene: SPREnsemblGeneIds (GRCh38): ENSG00000116096
EnsemblGeneIds (GRCh37): ENSG00000116096
OMIM: 182125, Gene2Phenotype
SPR is in 16 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
- OMIM
- 182125
- Clinvar variants
- Variants in SPR
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Fetal anomalies
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SPR.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: spr has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SPR.
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)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