Adult onset leukodystrophy
Gene: SPG21
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:56 p.m. | Last Modified: 10 Oct 2023, 5:56 p.m.
Panel Version: 3.18
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMIDs: 14564668, 24451228, 28752238), together with a supportive mouse model (PMID: 26978163).Created: 6 Apr 2023, 4:13 p.m. | Last Modified: 6 Apr 2023, 4:13 p.m.
Panel Version: 3.2
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 6 Apr 2023, 4:04 p.m. | Last Modified: 6 Apr 2023, 4:04 p.m.
Panel Version: 3.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Three patients reported with white matter abnormalities, diagnosed with Mast syndrome.
Sources: Expert listCreated: 21 Jun 2020, 6:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mast syndrome, MIM# 248900
Publications
Tag Q2_23_promote_green was removed from gene: SPG21.
Source Expert Review Green was added to SPG21. Source NHS GMS was added to SPG21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: SPG21.
Gene: spg21 has been classified as Amber List (Moderate Evidence).
gene: SPG21 was added gene: SPG21 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to 14564668 Phenotypes for gene: SPG21 were set to Mast syndrome, MIM# 248900 Review for gene: SPG21 was set to GREEN