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  2. Heterotaxy
  3. GDF1
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Heterotaxy

Gene: GDF1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high 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.
Sources: Expert list
Created: 6 May 2020, 11:10 a.m.

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

Created: 6 May 2020, 11:10 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital heart defects, multiple types, 6 613854
  • Right atrial isomerism (Ivemark) 208530
OMIM
602880
Clinvar variants
Variants in GDF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdf1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDF1 was added gene: GDF1 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GDF1 were set to 32144877 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530 Review for gene: GDF1 was set to GREEN