Hereditary neuropathy or pain disorder
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 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: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
FLVCR1 variants have been associated with Ataxia, posterior column, with retinitis pigmentosa (OMIM:609033) and as definitive G2P gene for the same condition. At least nine FLVCR1 variants have been reported in at least seven cases of OMIM:609033 (PMID: 21070897;38405817;32822874;28766925;37469134).Created: 5 Nov 2024, 4:45 p.m. | Last Modified: 5 Nov 2024, 4:45 p.m.
Panel Version: 6.104
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - ataxia & RP. Agree more suited to ataxia panelCreated: 6 Dec 2019, 8:10 p.m. | Last Modified: 6 Dec 2019, 8:10 p.m.
Panel Version: 0.56
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:09 p.m. | Last Modified: 6 Dec 2019, 8:09 p.m.
Panel Version: 0.56
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Multiple additional reports of association with neuropathy. Now R78 includes complex phenotypes should be includedCreated: 20 Oct 2024, 9:56 a.m. | Last Modified: 20 Oct 2024, 9:56 a.m.
Panel Version: 5.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033
- posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: FLVCR1. Tag Q3_24_NHS_review was removed from gene: FLVCR1.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FLVCR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: FLVCR1. Tag Q3_24_NHS_review tag was added to gene: FLVCR1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FLVCR1 were set to 21070897
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897 Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI