Syndromic Retinopathy
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)
At least 5 unrelated families reported with visual impairment and ataxia. Onset is usually in childhood.Created: 11 May 2022, 4:04 a.m. | Last Modified: 11 May 2022, 4:04 a.m.
Panel Version: 0.14087
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- RetNet
- Expert Review Green
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa, 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
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLVCR1 was added gene: FLVCR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet 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, 609033