Ciliopathies
Gene: GDF1

GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, this gene belongs on the Heterotaxy panel.
Created: 6 May 2020, 11:09 a.m. | Last Modified: 6 May 2020, 11:09 a.m.

Panel Version: 0.131

Created: 6 May 2020, 11:09 a.m.
Last Modified: 6 May 2020, 11:09 a.m.
Panel version: 0.131

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects.
No apparent genotype-phenotype correlation btw dominant and recessive disease.

OMIM does not describe any features suggestive of ciliopathy.

Potentially needs to be added to heterotaxy gene list?
Created: 6 May 2020, 4:48 a.m. | Last Modified: 6 May 2020, 4:48 a.m.

Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530

Publications

PMID: 32144877

Created: 6 May 2020, 4:48 a.m.
Last Modified: 6 May 2020, 4:48 a.m.
Panel version: 0.103

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Congenital heart defects, multiple types, 6 613854
Right atrial isomerism (Ivemark) 208530

OMIM

602880

Clinvar variants

Variants in GDF1

Penetrance

None

Publications

32144877

Panels with this gene