Undiagnosed metabolic disorders
Gene: GCSH
Associated with Atypical glycine encephalopathy, Infantile glycine encephalopathy and Neonatal glycine encephalopathy in Orphanet, which are also linked to the AMT and GLDC genes which are both green in this panel and for which there are multiple cases from screens of patients which did not find variants within GCLC. PMID:12402263 describes a heterozygous variant identified in a patient with transient neonatal hyperglycinemia, which was also present in his mother and brother who had no family history of the disorder. Reported with a possible G2P association with MIM 605899. Not enough evidence at this time to be promoted.Created: 23 Feb 2017, 5:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy 605899; Atypical glycine encephalopathy; Infantile glycine encephalopathy; Neonatal glycine encephalopathy; transient neonatal hyperglycinemia
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only one variant reported in one caseCreated: 19 Jan 2017, 1:55 p.m.
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
This gene has been classified as Red List (Low Evidence).
Publications for GCSH were set to 27604308; 16450403
This gene has been classified as Red List (Low Evidence).
GCSH was added to Undiagnosed metabolic disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene GCSH were set to Glycine encephalopathy 605899
GCSH was added to Undiagnosed metabolic disorderspanel. Sources: Literature
GCSH was created by sleigh