GDF1

growth differentiation factor 1
OMIM: 602880, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green GDF1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 6 MIM#613854
Red GDF1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530
Green GDF1 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.36	1 review	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
Green GDF1 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530
Red GDF1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services
Green GDF1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Right atrial isomerism, 208530 (3)
Red GDF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital heart defects
Red GDF1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS
Green GDF1 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530
Green GDF1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Right atrial isomerism, 208530 (3)
Red GDF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects
Green GDF1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Right atrial isomerism, 208530 (3)