Fetal anomalies
Gene: FLVCR1

FLVCR1 (feline leukemia virus subgroup C cellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 39306721: A new study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.

Included here as brain, limb and digital malformations can present antenatally.
Created: 7 Oct 2024, 6:16 a.m. | Last Modified: 7 Oct 2024, 6:16 a.m.

Panel Version: 1.279

progressive neurological condition, postnatal onset.
Created: 3 Dec 2019, 8:18 a.m. | Last Modified: 17 Feb 2022, 7:34 a.m.

Panel Version: 0.3642

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Ataxia, posterior column, with retinitis pigmentosa, MIM#609033

Publications

39306721

Created: 3 Dec 2019, 8:18 a.m.
Last Modified: 17 Feb 2022, 7:34 a.m.
Panel version: 1.279

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Ataxia, posterior column, with retinitis pigmentosa, MIM#609033

OMIM

609144

Clinvar variants

Variants in FLVCR1

Penetrance

None

Publications

39306721

Panels with this gene