FMN1

formin 1
OMIM: 136535, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber FMN1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hearing loss disorder MONDO:0005365
Tags
  • SV/CNV

Amber FMN1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.213

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hearing loss disorder MONDO:0005365
Tags
  • SV/CNV

Red FMN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

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 0.76

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 1.314

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