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Severe Paediatric Disorders

Gene: FBLN5

Green List (high evidence)

FBLN5 (fibulin 5)
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FBLN5; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Cutis laxa, autosomal dominant 2, 614434 (3) | Cutis laxa, autosomal recessive, type IA, 219100 (3) | Macular degeneration, age-related, 3, 608895 (3) | Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Macular degeneration, age-related, 3, 608895
  • Cutis laxa, autosomal recessive, type IA, 219100
  • Neuropathy, hereditary, with or without age-related macular degeneration, 608895
  • ?Cutis laxa, autosomal dominant 2, 614434
OMIM
604580
Clinvar variants
Variants in FBLN5
Penetrance
None
Publications
Panels with this gene