Cerebral vascular malformations

Gene: FLVCR2

Amber List (moderate evidence)

FLVCR2 (feline leukemia virus subgroup C cellular receptor family member 2)
EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain): amber in view of reported prenatal lethality, with surviving individuals not having a clear phenotype that is of relevance to this panel
Created: 29 Nov 2019, 7:04 p.m. | Last Modified: 29 Nov 2019, 7:04 p.m.
Panel Version: 1.67

Ellen Thomas (Genomics England Curator)

Comment on list classification: Cerebral vasculopathy is part of this complex phenotype.
Created: 19 Dec 2016, 2:21 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

More than 3 unrelated cases/family reports with different variants for Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome. It is a green gene in the Inherited white matter disorders Version 1.0 and Intellectual disability Version 1.22 gene panels.
Created: 14 Dec 2016, 4:03 p.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Proliferative vasculopathy seen.
Created: 12 Dec 2016, 3:33 p.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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to FLVCR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FLVCR2.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FLVCR2.

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FLVCR2 were set to 20206334

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FLVCR2 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

FLVCR2 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLVCR2 was added to Cerebrovascular disorderspanel. Sources: UKGTN

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLVCR2 was created by ellenmcdonagh