Inherited white matter disordersGene: SPART
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
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.
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
Troyer syndrome, MIM#275900
Variants in this GENE are reported as part of current diagnostic practice
Gene: spart has been classified as Green List (High Evidence).
Phenotypes for gene: SPART were changed from Troyer syndrome, MIM#275900 to Troyer syndrome, OMIM:275900
Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148
Gene: spart has been classified as Red List (Low Evidence).
SPART was added to Inherited white matter disorders panel. Sources: Expert list
SPART was created by Zornitza Stark