PanelApp
  1. Genes and Genomic Entities
  2. SAMD9

SAMD9

sterile alpha motif domain containing 9
OMIM: 610456, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SAMD9 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

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 1.24

    		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 1.3512

    		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 1.410

    		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 0.110

    		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 1.83

    		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 1.465

    		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 2.14

    		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 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • MIRAGE syndrome, MIM# 617053
    Tags
    • treatable
    • endocrine
    • haematological