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Fetal anomalies

Gene: GDF3

Red List (low evidence)

GDF3 (growth differentiation factor 3)
EnsemblGeneIds (GRCh38): ENSG00000184344
EnsemblGeneIds (GRCh37): ENSG00000184344
OMIM: 606522, Gene2Phenotype
GDF3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder. Some individuals had skeletal features.

More recent publication PMID 29260090: variant inherited from phenotypically normal parent, leading authors to speculate about reduced penetrance.
Created: 24 Feb 2022, 9:48 p.m. | Last Modified: 24 Feb 2022, 9:54 p.m.
Panel Version: 0.4205

Phenotypes
Klippel-Feil syndrome 3, autosomal dominant 613702

Publications

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia.
Sources: Literature
Created: 24 Feb 2022, 5:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microphthalmia with coloboma 6, OMIM #613703
  • Microphthalmia, isolated 7, OMIM # 613704
OMIM
606522
Clinvar variants
Variants in GDF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf3 has been classified as Red List (Low Evidence).

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf3 has been classified as Green List (High Evidence).

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: gdf3 has been classified as Green List (High Evidence).

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: GDF3 was added gene: GDF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF3 were set to PubMed: 19864492 Phenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704 Review for gene: GDF3 was set to GREEN