Hereditary Neuropathy - complex
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 2 Apr 2020, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033
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
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flvcr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flvcr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21267618; 21070897 Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Review for gene: FLVCR1 was set to GREEN gene: FLVCR1 was marked as current diagnostic