SGCA

sarcoglycan alpha
OMIM: 600119, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SGCA in Mendeliome


Version 1.2656

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
  • autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152

Red SGCA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.174

review Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099

Green SGCA in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.59

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Royal Melbourne Hospital
    Phenotypes
    • Limb-girdle muscular dystrophy
    • Muscular dystrophy, limb-girdle, type 2D, 608099
    • autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152

    Green SGCA in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.25

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099

    Green SGCA 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
    • Muscular dystrophy, limb-girdle, type 2D, 608099 (3)

    Green SGCA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2D

    Red SGCA in Fetal anomalies


    Version 1.370

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2D 608099

    Green SGCA in Prepair 1000+


    Level 2: Screening
    Version 2.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
    • autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968

    Red SGCA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099

    Green SGCA in Prepair 500+


    Level 2: Screening
    Version 2.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
    • autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968