FMN1

formin 1
OMIM: 136535, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber FMN1 in Mendeliome


Version 2.0

1 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 2.0

1 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 1.0

1 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 1.0

1 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 2.0

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