FMN1

formin 1
OMIM: 136535, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber FMN1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • oligosyndactyly
  • radioulnar synostosis
  • hearing loss
  • renal defects
Tags
  • SV/CNV

Red FMN1 in Skeletal dysplasia

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

review Unknown
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Animal models with skeletal dysplastic phenotypes

Amber FMN1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • oligosyndactyly
    • radioulnar synostosis
    • hearing loss
    • renal defects
    Tags
    • SV/CNV

    Amber FMN1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • oligosyndactyly
    • radioulnar synostosis
    • hearing loss
    • renal defects