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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. AFF4
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Pulmonary Fibrosis_Interstitial Lung Disease

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chronic interstitial lung disease is a feature of this condition. More than 15 unrelated individuals reported.
Sources: Expert Review
Created: 18 Sep 2021, 4:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHOPS syndrome, MIM# 616368

Publications

Created: 18 Sep 2021, 4:02 a.m.

Panel version: 0.32

Details

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

History Filter Activity

18 Sep 2021, 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).

18 Sep 2021, 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).

18 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AFF4 was added gene: AFF4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AFF4 were set to 31058441; 25730767 Phenotypes for gene: AFF4 were set to CHOPS syndrome, MIM# 616368 Review for gene: AFF4 was set to GREEN