Adult onset leukodystrophy
Gene: SPG21EnsemblGeneIds (GRCh38): ENSG00000090487
EnsemblGeneIds (GRCh37): ENSG00000090487
OMIM: 608181, Gene2Phenotype
SPG21 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mast syndrome, MIM# 248900
- OMIM
- 608181
- Clinvar variants
- Variants in SPG21
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: SPG21.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: SPG21.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spg21 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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