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Mendeliome

Gene: FBXL7

Red List (low evidence)

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

Hazel Phillimore (Victorian Clinical Genetics Services)

I don't know

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, 5:50 a.m. | Last Modified: 3 Aug 2020, 5:57 a.m.
Panel Version: 0.3648

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome; 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.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome
OMIM
605656
Clinvar variants
Variants in FBXL7
Penetrance
None
Publications
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome; 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. to Hennekam lymphangiectasia-lymphedema syndrome

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: 0

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

Hazel Phillimore (Victorian Clinical Genetics Services)

gene: FBXL7 was added gene: FBXL7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL7 were set to PMID: 31633297 Phenotypes for gene: FBXL7 were set to Hennekam lymphangiectasia-lymphedema syndrome; 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. Review for gene: FBXL7 was set to AMBER