Laterality disorders and isomerism
Gene: GDF1

GDF1 (growth differentiation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000130283
EnsemblGeneIds (GRCh37): ENSG00000130283
OMIM: 602880, Gene2Phenotype
GDF1 is in 10 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Not currently on CGGL Royal Brompton panel. Good but limited evidence in literature for right atrial isomerism with some segregation data (rare cause)
Created: 25 Nov 2019, 10:55 p.m. | Last Modified: 25 Nov 2019, 10:55 p.m.

Panel Version: 0.51

Phenotypes
OMIM 208530 Right atrial isomerism

Publications

Created: 25 Nov 2019, 10:55 p.m.
Last Modified: 25 Nov 2019, 10:55 p.m.
Panel version: 0.51

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: GDF1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Right atrial isomerism (Ivemark); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

602880

Clinvar variants

Variants in GDF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530

27 Nov 2019, Gel status: 3