1. Genes and Genomic Entities
  2. GDF1

GDF1

growth differentiation factor 1
OMIM: 602880, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red GDF1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Green GDF1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital heart defects, multiple types, 6, OMIM:613854
  • Right atrial isomerism (Ivemark), OMIM:208530
  • Tetralogy of Fallot
  • Double-outlet right ventricle
  • Right atrial isomerism
  • Visceral Heterotaxy, Transposition Of The Great Arteries
Red GDF1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Green GDF1 in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital heart defects, multiple types, 6, OMIM:613854
  • Right atrial isomerism (Ivemark), OMIM:208530
Red GDF1 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 Not set
    Sources
    • Emory Genetics Laboratory
    Green GDF1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Congenital heart defects, multiple types, 6, OMIM:613854
    • Right atrial isomerism (Ivemark), OMIM:208530
    Green GDF1 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CONOTRUNCAL HEART MALFORMATIONS 217095
    • TETRALOGY OF FALLOT 187500
    • TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854
    Red GDF1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • CONOTRUNCAL HEART MALFORMATIONS
    • CTHM
    Green GDF1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    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 Green
    • South West GLH
    Phenotypes
    • Congenital heart defects, multiple types, 6, OMIM:613854
    • Right atrial isomerism (Ivemark), OMIM:208530
    Red GDF1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Expert list