Inherited white matter disorders
Gene: SPARTEnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 9 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Green. 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 is also recommended for Green status in the White matter disorders and cerebral calcification - narrow panel (Version 1.173).Created: 11 Jun 2021, 1:21 p.m. | Last Modified: 11 Jun 2021, 1:21 p.m.
Panel Version: 1.121
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Zornitza Stark (Australian Genomics)
At least 3 unrelated families reported in the literature, white matter changes are part of the phenotype.Created: 24 Jul 2018, 10:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, MIM#275900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Troyer syndrome, OMIM:275900
- OMIM
- 607111
- Clinvar variants
- Variants in SPART
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Hereditary spastic paraplegia
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: spart has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spart has been classified as Red List (Low Evidence).
Added New Source
Zornitza Stark (Australian Genomics)SPART was added to Inherited white matter disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)SPART was created by Zornitza Stark