ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 612866, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ALG14 in Neuromuscular disorders


Version 5.243
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
  • Congenital myasthenic syndrome

Amber ALG14 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.76
Latest signed off version: v2.4 (4 Mar 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
    • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
    Tags
    • for-review

    Red ALG14 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.130
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Expert list

    Green ALG14 in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.38
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Eligibility statement prior genetic testing
    Phenotypes
    • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227

    Green ALG14 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
    • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227

    Amber ALG14 in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
    • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
    Tags
    • for-review

    Amber ALG14 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital myasthenic syndrome
    • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
    Tags
    • for-review

    Amber ALG14 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
    • Intellectual disability
    Tags
    • for-review