FBLN1

fibulin 1
OMIM: 135820, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red FBLN1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180

Red FBLN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Red FBLN1 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180