White matter disorders and cerebral calcification - narrow panel
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spastic paralplegia 11, autosomal recessive, OMIM:604360
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: SPG11.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SPG11.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: spg11 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPG11 were set to 14745065; 18067136
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SPG11 were changed from Spastic paralplegia 11, autosomal recessive, MIM#604360 to Spastic paralplegia 11, autosomal recessive, OMIM:604360
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPG11 were set to 14745065
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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