Childhood onset hereditary spastic paraplegia
Gene: RETREG1EnsemblGeneIds (GRCh38): ENSG00000154153
EnsemblGeneIds (GRCh37): ENSG00000154153
OMIM: 613114, Gene2Phenotype
RETREG1 is in 9 panels
2 reviews
Achchuthan Shanmugasundram (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: 4 May 2024, 6:25 p.m. | Last Modified: 4 May 2024, 6:30 p.m.
Panel Version: 5.3
Comment on list classification: There is sufficient evidence available for the association of RETREG1 gene with spastic paraplegia and hence this gene can be promoted to green rating in the next GMS review.Created: 4 Jan 2024, 12:23 p.m. | Last Modified: 4 Jan 2024, 12:23 p.m.
Panel Version: 4.31
PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).
PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter).
Gavin Ryan also mentioned in his review that LoF homozygous variant in this gene was identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness.Created: 4 Jan 2024, 12:20 p.m. | Last Modified: 4 Jan 2024, 12:21 p.m.
Panel Version: 4.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115
Publications
Gavin Ryan (West Midlands Regional Genetics Laboratory)
Aydinlar et al identified individuals with hereditary neuropathy caused by variant in this gene who also had spasticity. Further, LoF homozygous variant in this gene identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness.
Sources: NHS GMSCreated: 19 Dec 2023, 1:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115
- OMIM
- 613114
- Clinvar variants
- Variants in RETREG1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: RETREG1. Tag Q4_23_NHS_review was removed from gene: RETREG1.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to RETREG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: retreg1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RETREG1 were changed from to Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: RETREG1 were set to 24327336
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: RETREG1. Tag Q4_23_NHS_review tag was added to gene: RETREG1.
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Gavin Ryan (West Midlands Regional Genetics Laboratory)gene: RETREG1 was added gene: RETREG1 was added to Childhood onset hereditary spastic paraplegia. Sources: NHS GMS Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 24327336 Penetrance for gene: RETREG1 were set to unknown Review for gene: RETREG1 was set to GREEN