Glaucoma (developmental)
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, posterior column, with retinitis pigmentosa; 609033
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, posterior column, with retinitis pigmentosa, 609033
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Severe microcephaly
- Hereditary spastic paraplegia, childhood onset
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Limb disorders
- Hereditary neuropathy
- Structural eye disease
- Pain syndromes
- DDG2P
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)FLVCR1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory