SAMD9

sterile alpha motif domain containing 9
OMIM: 610456, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SAMD9 in Bone Marrow Failure Level 2: Haematological disorders Version 1.136 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.36	1 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 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.4216	2 reviews	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 1.638	2 reviews	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 1.25 Component of the following Super Panels: Neuromuscular Superpanel	1 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 0.111	1 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 1.95	1 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 1.522	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Phenotypes MIRAGE syndrome, MIM#617053
Green SAMD9 in IBMDx study Version 0.38	1 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 2.15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Green SAMD9 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes MIRAGE syndrome, MIM# 617053 Tags treatable endocrine haematological
Green SAMD9 in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 0.57	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Phenotypes MIRAGE syndrome (MIM#617053)