Ataxia - paediatric
Gene: FLVCR1
FLVCR1 (feline leukemia virus subgroup C cellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Onset usually in childhood.
Sources: Expert listCreated: 16 Apr 2020, 11:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, posterior column, with retinitis pigmentosa MIM#609033
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa MIM#609033
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- Panels with this gene
-
- Hand and foot malformations
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- Ataxia - adult onset
- Optic Atrophy
- Mendeliome
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: flvcr1 has been classified as Green List (High Evidence).
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: flvcr1 has been classified as Green List (High Evidence).
16 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLVCR1 was added gene: FLVCR1 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Review for gene: FLVCR1 was set to GREEN