Pain syndromes
Gene: FLVCR1
FLVCR1 (feline leukemia virus subgroup C cellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 panels
1 review
Tomislav Kokotovic (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases)
Sources: LiteratureCreated: 3 May 2020, 6:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
insensitivity to pain; neurodevelopmental delay; joint hypermobility; scoliosis; dysautonomia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- insensitivity to pain
- neurodevelopmental delay
- joint hypermobility
- scoliosis
- dysautonomia
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Limb disorders
- Hereditary neuropathy
- Retinal disorders
- DDG2P
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Structural eye disease
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Severe microcephaly
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
3 May 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tomislav Kokotovic (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases)gene: FLVCR1 was added gene: FLVCR1 was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 27923065 Phenotypes for gene: FLVCR1 were set to insensitivity to pain; neurodevelopmental delay; joint hypermobility; scoliosis; dysautonomia Penetrance for gene: FLVCR1 were set to unknown Review for gene: FLVCR1 was set to AMBER