Primary lymphoedema

Gene: FBXL7

No list

FBXL7 (F-box and leucine rich repeat protein 7)
EnsemblGeneIds (GRCh38): ENSG00000183580
EnsemblGeneIds (GRCh37): ENSG00000183580
OMIM: 605656, Gene2Phenotype
FBXL7 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Created: 4 Aug 2020, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam syndrome; lymphoedema

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hennekam syndrome
  • lymphoedema
OMIM
605656
Clinvar variants
Variants in FBXL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FBXL7 was added gene: FBXL7 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL7 were set to 31633297 Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphoedema Review for gene: FBXL7 was set to RED