SAMD9

sterile alpha motif domain containing 9
OMIM: 610456, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SAMD9 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM#617053
Green SAMD9 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes MIRAGE syndrome (MIM#617053)
Green SAMD9 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.124 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIRAGE syndrome, MIM# 617053
Green SAMD9 in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIRAGE syndrome, MIM#617053 Tumoral calcinosis, familial, normophosphatemic, MIM#610455 Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041
Green SAMD9 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes MIRAGE Syndrome, MIM#617053
Green SAMD9 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM# 617053
Green SAMD9 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Green SAMD9 in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes MIRAGE syndrome, 617053
Green SAMD9 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Phenotypes MIRAGE syndrome, MIM#617053
Green SAMD9 in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM#617053
Red SAMD9 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Green SAMD9 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM# 617053 Tags treatable endocrine haematological