Hydrocephalus
Gene: FLVCR2EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Sufficient cases for causation. Prenatally lethal.Created: 30 May 2017, 7:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790
- OMIM
- 610865
- Clinvar variants
- Variants in FLVCR2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLVCR2 were changed from Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FLVCR2.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)FLVCR2 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)FLVCR2 was created by helen.brittain