Hand and foot malformations
Gene: FLVCR1EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A 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.
Sources: LiteratureCreated: 3 Oct 2024, 10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092, FLVCR1-related
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
- Literature
- Phenotypes
-
- neurodevelopmental disorder MONDO:0700092, FLVCR1-related
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: flvcr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: flvcr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLVCR1 was added gene: FLVCR1 was added to Hand and foot malformations. Sources: Literature Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 39306721 Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related Review for gene: FLVCR1 was set to GREEN gene: FLVCR1 was marked as current diagnostic