White matter disorders and cerebral calcification - narrow panel
Gene: SPG11
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 phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green in the next review.Created: 9 Jun 2021, 1:20 p.m. | Last Modified: 9 Jun 2021, 1:20 p.m.
Panel Version: 1.169
Comment on publications: PMID: 33581793. A total of 339 patients were analysed, their mean age at onset was 13.10 +/- 3.65 years.Created: 9 Jun 2021, 1:19 p.m. | Last Modified: 9 Jun 2021, 1:19 p.m.
Panel Version: 1.168
Complex SPG with central involvement, including white matter changes. Variable age of onset, including in childhood.Created: 16 Sep 2020, 5:05 a.m. | Last Modified: 16 Sep 2020, 5:05 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, MIM# 604360
Publications
Tag Q2_21_rating was removed from gene: SPG11.
Source NHS GMS was added to SPG11. Source Expert Review Green was added to SPG11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: SPG11.
Gene: spg11 has been classified as Amber List (Moderate Evidence).
Publications for gene: SPG11 were set to 14745065; 18067136
Phenotypes for gene: SPG11 were changed from Spastic paralplegia 11, autosomal recessive, MIM#604360 to Spastic paralplegia 11, autosomal recessive, OMIM:604360
Publications for gene: SPG11 were set to 14745065
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: SPG11 was added gene: SPG11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 14745065 Phenotypes for gene: SPG11 were set to Spastic paralplegia 11, autosomal recessive, MIM#604360