1. Genes and Genomic Entities
  2. GCSH

GCSH

glycine cleavage system protein H
OMIM: 238330, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red GCSH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Glycine encephalopathy 605899
  • Glycine encephalopathy 605899
  • Atypical glycine encephalopathy
  • Infantile glycine encephalopathy
  • Neonatal glycine encephalopathy
  • transient neonatal hyperglycinemia
Green GCSH in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
    • Glycine encephalopathy
    • Transient neonatal hyperglycinemia
    Green GCSH in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • GLYCINE ENCEPHALOPATHY 605899
    Green GCSH in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
    • Glycine encephalopathy
    • Transient neonatal hyperglycinemia
    Green GCSH in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
    • Glycine encephalopathy
    • Transient neonatal hyperglycinemia