Hereditary ataxia with onset in adulthood
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports in the lit, also associated with isolated RPCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Posterior column ataxia with retinitis pigmentosa, 609033
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Retinopathy-sensory neuropathy syndrome, OMIM:609033
- posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FLVCR1 were changed from Posterior Column Ataxia with Retinitis Pigmentosa; Posterior column ataxia with retinitis pigmentosa, 609033; Ataxia, posterior column, with retinitis pigmentosa, to Retinopathy-sensory neuropathy syndrome, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 for gene: FLVCR1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FLVCR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to FLVCR1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,