Arthrogryposis
Gene: FLVCR2EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 10 panels
1 review
Chirag Patel (Genetic Health Queensland)
Severe arthrogryposis disorder
Sources: Expert listCreated: 22 Mar 2023, 11:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790
- OMIM
- 610865
- Clinvar variants
- Variants in FLVCR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flvcr2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: flvcr2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: FLVCR2 was added gene: FLVCR2 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to PMID: 20206334, 20014121, 20014121 Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790 Review for gene: FLVCR2 was set to GREEN