Inherited white matter disorders

Gene: SPART

Green List (high evidence)

SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 10 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)

Green List (high evidence)

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

History Filter Activity

11 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Jun 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPART were changed from Troyer syndrome, MIM#275900 to Troyer syndrome, OMIM:275900

11 Jun 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: spart has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

SPART was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

SPART was created by Zornitza Stark