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  3. AFF4
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: 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.
Created: 26 Apr 2021, 10:22 a.m. | Last Modified: 26 Apr 2021, 10:23 a.m.
Panel Version: 0.3713

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHOPS syndrome, MIM#616368; MONDO:0014609

Publications

Mode of pathogenicity
Other

Created: 26 Apr 2021, 10:22 a.m.
Last Modified: 26 Apr 2021, 10:23 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3713

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Three de novo missense reported only. Gain of function is the disease mechanism.
Created: 26 Apr 2021, 6:33 a.m. | Last Modified: 26 Apr 2021, 6:33 a.m.
Panel Version: 0.3707

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CHOPS syndrome, MIM#616368

Publications

Mode of pathogenicity
Other

Created: 26 Apr 2021, 6:33 a.m.
Last Modified: 26 Apr 2021, 6:33 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3707

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • CHOPS syndrome, MIM#616368
  • MONDO:0014609
OMIM
604417
Clinvar variants
Variants in AFF4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Oct 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).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AFF4 were changed from CORNELIA DE LANGE-LIKE SYNDROME to CHOPS syndrome, MIM#616368; MONDO:0014609

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AFF4 were set to

28 Oct 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: AFF4 was changed from to Other

28 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AFF4 was added gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME