White matter disorders and cerebral calcification - narrow panel
Gene: SPARTEnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant disorder in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 11 Jun 2021, 1:16 p.m. | Last Modified: 11 Jun 2021, 1:16 p.m.
Panel Version: 1.173
Zornitza Stark (Australian Genomics)
White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described.Created: 16 Sep 2020, 5:03 a.m. | Last Modified: 16 Sep 2020, 5:03 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome 275900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Troyer syndrome, OMIM:275900
- OMIM
- 607111
- Clinvar variants
- Variants in SPART
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Intellectual disability
- Inherited white matter disorders
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: SPART.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SPART. Source Expert Review Green was added to SPART. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: spart has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SPART.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SPART were changed from Troyer syndrome, MIM#275900 to Troyer syndrome, OMIM:275900
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPART were set to 27112432; 18413476; 26003402; 12134148; 28875386; 15372254
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SPART was added gene: SPART was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148 Phenotypes for gene: SPART were set to Troyer syndrome, MIM#275900