1. Genes and Genomic Entities
  2. SGCA

SGCA

sarcoglycan alpha
OMIM: 600119, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green SGCA in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099
    Green SGCA in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2D, 608099
    • Limb-girdle muscular dystrophy
    Red SGCA in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.31
    Latest signed off version: v5.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Expert list
    Green SGCA in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2D, 608099
    • Limb-girdle muscular dystrophy
    Red SGCA in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2D 608099
    Red SGCA in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green SGCA in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099
    Green SGCA in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099