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Childhood onset dystonia, chorea or related movement disorder

Gene: PAH

Red List (low evidence)

PAH (phenylalanine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

History Filter Activity

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PAH was added gene: PAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PAH was set to