Structural eye disease
Gene: FLVCR1EnsemblGeneIds (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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa, 609033
- Eye Disorders
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- 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
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FLVCR1. Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FLVCR1 was added gene: FLVCR1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: FLVCR1 was set to Phenotypes for gene: FLVCR1 were set to Eye Disorders