Ataxia and cerebellar anomalies - narrow panel
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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 Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 to Retinopathy-sensory neuropathy syndrome, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FLVCR1 were changed from Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa, to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
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 Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FLVCR1 was added gene: FLVCR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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,