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Prepair 1000+

Gene: SPART

Green List (high evidence)

SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 8 panels

2 reviews

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SPART, HGNC:18514. Causes autosomal recessive spastic paraplegia-20, also known as Troyer syndrome. from OMIM: The disorder has its onset in early childhood with dysarthria, distal muscle wasting, and difficulty in learning to walk. Lower limb spasticity and contractures usually make walking impossible by the third or fourth decade. Can also be associated with some mild cognitive impairment. Associated with weakness and atrophy of thenar, hypothenar, and dorsal interosseous muscles. More than 5 unrelated families reported. Enriched in Amish population.
Created: 3 Feb 2025, 6:34 a.m. | Last Modified: 3 Feb 2025, 6:34 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome MIM#275900

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported.
Created: 22 Jul 2022, 2:40 a.m. | Last Modified: 22 Jul 2022, 2:40 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome (MIM#275900); SPG20; MONDO:0010156

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Troyer syndrome (MIM#275900)
  • SPG20
  • MONDO:0010156
OMIM
607111
Clinvar variants
Variants in SPART
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spart has been classified as Green List (High Evidence).

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 (3) to Troyer syndrome (MIM#275900); SPG20; MONDO:0010156

26 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPART were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPART was added gene: SPART was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)