Hand and foot malformations
Gene: AFF4

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

CHOPS syndrome: C for Cognitive impairment and Coarse facies, H for Heart defects, O for Obesity, P for Pulmonary involvement and S for Short stature and Skeletal dysplasia. 8 out of 11 cases had skeletal dysplasia as a feature of the condition. Gain-of-function is the mechanism of disease.
Sources: Other
Created: 21 Sep 2021, 4:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHOPS syndrome MIM#616368

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Sep 2021, 4:47 a.m.

Panel version: Imported from Skeletal dysplasia panel version 0.114

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

GoF postulated.
Created: 26 Apr 2021, 10:26 a.m. | Last Modified: 26 Apr 2021, 10:26 a.m.

Panel Version: 0.7348

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, 10:26 a.m.
Last Modified: 26 Apr 2021, 10:26 a.m.
Panel version: Imported from Mendeliome panel version 0.7348

Details

Mode of Inheritance

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

OMIM

604417

Clinvar variants

Variants in AFF4

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AFF4 was added gene: AFF4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AFF4 were set to CHOPS syndrome MIM#616368

Hand and foot malformations Gene: AFF4