1. Genes and Genomic Entities
  2. FBLN1

FBLN1

fibulin 1
OMIM: 135820, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red FBLN1 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Amber FBLN1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
    • SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
    Amber FBLN1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
    Red FBLN1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180