Hereditary ataxia
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 10 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Handful of families in litCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, posterior column, with retinitis pigmentosa, ; Posterior Column Ataxia with Retinitis Pigmentosa
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa,
- Posterior Column Ataxia with Retinitis Pigmentosa
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- Complete
- 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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FLVCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FLVCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN