AFF4

AF4/FMR2 family member 4
OMIM: 604417, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AFF4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • CHOPS syndrome, MIM# 616368
  • ventricular septal defect
  • patent ductus arteriosus
  • patent foramen ovale

Green AFF4 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHOPS syndrome, MIM#616368
  • MONDO:0014609

Green AFF4 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHOPS syndrome, MIM#616368
  • MONDO:0014609

Green AFF4 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CHOPS syndrome, MIM# 616368

Green AFF4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • CHOPS syndrome, MIM#616368
  • MONDO:0014609

Green AFF4 in Skeletal dysplasia

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHOPS syndrome MIM#616368

Green AFF4 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Other
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • CHOPS syndrome MIM#616368

    Green AFF4 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • CHOPS syndrome, MIM#616368
    • MONDO:0014609