SAMD9

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green SAMD9 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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 1.0

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 3.0

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 2.0

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 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • MIRAGE syndrome (MIM#617053)