Anophthalmia_Microphthalmia_Coloboma
Gene: GDF3EnsemblGeneIds (GRCh38): ENSG00000184344
EnsemblGeneIds (GRCh37): ENSG00000184344
OMIM: 606522, Gene2Phenotype
GDF3 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.Created: 24 Feb 2022, 9:47 p.m. | Last Modified: 24 Feb 2022, 9:47 p.m.
Panel Version: 1.14
Chirag Patel (Genetic Health Queensland)
Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia.
Sources: Expert listCreated: 24 Feb 2022, 5:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704
Publications
- PubMed: 19864492
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Microphthalmia with coloboma 6, OMIM #613703
- Microphthalmia, isolated 7, OMIM # 613704
- OMIM
- 606522
- Clinvar variants
- Variants in GDF3
- Penetrance
- None
- Publications
-
- PubMed: 19864492
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gdf3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gdf3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: gdf3 has been classified as Green List (High Evidence).
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 Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list 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