Lymphoedema_syndromic
Gene: FBXL7

FBXL7 (F-box and leucine rich repeat protein 7)
EnsemblGeneIds (GRCh38): ENSG00000183580
EnsemblGeneIds (GRCh37): ENSG00000183580
OMIM: 605656, Gene2Phenotype
FBXL7 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 3 Aug 2020, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam syndrome; lymphedema

Publications

31633297

Created: 3 Aug 2020, 7:43 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Hennekam syndrome
lymphedema

OMIM

605656

Clinvar variants

Variants in FBXL7

Penetrance

None

Publications

31633297

Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxl7 has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 1

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