White matter disorders and cerebral calcification - narrow panel
Gene: SPART
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
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
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
Tag Q2_21_rating was removed from gene: SPART.
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)
Gene: spart has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SPART.
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; 28875386; 15372254
Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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