SGCD

sarcoglycan delta
OMIM: 601411, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SGCD in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2F, 601287
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive

Green SGCD in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.78

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1L
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
  • Cardiomyopathy, dilated, 1L (606685)

Red SGCD in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review Not set
Sources
  • Expert Review Red
  • Expert list

Green SGCD in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Latest signed off version: v2.4 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Limb-Girdle Muscular Dystrophy, Recessive
    • Muscular dystrophy, limb-girdle, type 2F, 601287
    • Limb-girdle muscular dystrophy

    Red SGCD in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.8

    review Not set
    Sources
    • Literature
    Phenotypes
    • anorectal malformation

    Amber SGCD in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.31
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Wessex and West Midlands GLH
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
    • Cardiomyopathy, dilated, 1L
    • Cardiomyopathy, dilated, 1L (606685)

    Red SGCD in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Amber SGCD in Cardiomyopathies - including childhood onset


    Version 1.77
    Latest signed off version: v1.4 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1L, 606685

    Red SGCD in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green SGCD in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 1L, 606685
    • Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287