PanelApp
  1. Genes and Genomic Entities
  2. SAMD9L

SAMD9L

sterile alpha motif domain containing 9 like
OMIM: 611170, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SAMD9L 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
    • Ataxia-pancytopenia syndrome, MIM# 159550

    Green SAMD9L in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia-pancytopenia syndrome, MIM# 159550
    • Intellectual disability

    Red SAMD9L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual disability

    Green SAMD9L in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.59

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia 49, MIM# 619806
    • Ataxia-pancytopaenia syndrome, MIM# 159550

    Green SAMD9L in IBMDx study


    Version 0.38

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia-pancytopenia syndrome, MIM# 159550

    Green SAMD9L 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
    • Ataxia-pancytopenia syndrome, MIM# 159550
    Tags
    • treatable
    • immunological
    • haematological