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  3. AFF4
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Congenital Heart Defect

Gene: AFF4

Green List (high evidence)
AFF4 (AF4/FMR2 family member 4)
EnsemblGeneIds (GRCh38): ENSG00000072364
EnsemblGeneIds (GRCh37): ENSG00000072364
OMIM: 604417, Gene2Phenotype
AFF4 is in 8 panels

1 review

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 15 unrelated individuals reported. CdL-like, clinically recognisable phenotype, characterised by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. CHD include VSD, PDA, PFO.
Sources: Literature, Expert Review
Created: 29 Jun 2022, 5:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ventricular septal defect; patent ductus arteriosus; patent foramen ovale

Publications

Created: 29 Jun 2022, 5:52 a.m.

Panel version: 0.217

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CHOPS syndrome, MIM# 616368
  • ventricular septal defect
  • patent ductus arteriosus
  • patent foramen ovale
OMIM
604417
Clinvar variants
Variants in AFF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aff4 has been classified as Green List (High Evidence).

29 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AFF4 were changed from ventricular septal defect; patent ductus arteriosus; patent foramen ovale to CHOPS syndrome, MIM# 616368; ventricular septal defect; patent ductus arteriosus; patent foramen ovale

29 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aff4 has been classified as Green List (High Evidence).

29 Jun 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: AFF4 was added gene: AFF4 was added to Congenital Heart Defect. Sources: Literature,Expert Review Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AFF4 were set to 25730767; 31058441 Phenotypes for gene: AFF4 were set to ventricular septal defect; patent ductus arteriosus; patent foramen ovale Review for gene: AFF4 was set to GREEN