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Gene: GDF1

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Right atrial isomerism (RAI) is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.
GDF1 mutations have been identified in Finnish, Ashkenazi Jewish and Arab-Muslim populations.
Created: 4 Nov 2024, 5:16 a.m. | Last Modified: 4 Nov 2024, 5:16 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Right atrial isomerism (Ivemark), MIM #208530

Publications

Created: 4 Nov 2024, 5:16 a.m.
Last Modified: 4 Nov 2024, 5:16 a.m.
Panel version: 1.546

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Right atrial isomerism, 208530 (3)

OMIM

602880

Clinvar variants

Variants in GDF1

Penetrance

None

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Right atrial isomerism, 208530 (3) for gene: GDF1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF1 was added gene: GDF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)

Prepair 1000+ Gene: GDF1