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Additional findings_Paediatric

Gene: GCH1

Amber List (moderate evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels

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History Filter Activity

27 Aug 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCH1 was added gene: GCH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GCH1 were set to Dystonia, dopa-responsive