Adult onset neurodegenerative disorder
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, 4:47 p.m. | Last Modified: 10 Oct 2023, 4:47 p.m.
Panel Version: 4.37
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: 4.3
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: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Founder variant in Amish, two additional families and a mouse model. Progressive adult-onset disorder.Created: 25 Sep 2020, 2:57 a.m. | Last Modified: 25 Sep 2020, 2:57 a.m.
Panel Version: 2.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mast syndrome, MIM# 248900
Publications
Gene now called ACP33 in OMIM. Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Only 3 variants listed in HGMDpro, one is a missense with no functional studies - amber?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive
No additional patient identified using Sheffield panel.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Tag Q2_23_promote_green was removed from gene: SPG21.
Source Expert Review Green 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).
Publications for gene: SPG21 were set to 14564668; 28752238; 24451228
Source Expert Review Red was added to SPG21. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to SPG21.
Publications for gene SPG21 were changed from Simpson et al. (2003) to 14564668; 28752238; 24451228
Source Yorkshire and North East GLH was added to SPG21.
Source NHS GMS was added to SPG21.
Source London North GLH was added to SPG21.
Louise Daugherty: Comment on phenotypes: amended
gene: SPG21 was added gene: SPG21 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to Simpson et al. (2003) Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive