Likely inborn error of metabolism - targeted testing not possible
Gene: HPDComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for both phenotypes. At least 4 variants reported in unrelated cases of Tyrosinemia, type III 276710 and 4 variants in 6 unrelated cases of Hawkinsinuria 140350 (at least 2 of these cases were compound heterozygotes).Created: 15 Aug 2019, 11:40 a.m. | Last Modified: 15 Aug 2019, 11:40 a.m.
Panel Version: 1.149
Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)Created: 15 Aug 2019, 10:45 a.m. | Last Modified: 15 Aug 2019, 10:45 a.m.
Panel Version: 1.147
Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Gene: hpd has been classified as Green List (High Evidence).
Publications for gene: HPD were set to 27604308
Phenotypes for gene: HPD were changed from Hawkinsinuria 140350; Tyrosinemia, type III 276710 to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Phenotypes for gene: HPD were changed from Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Source NHS GMS was added to HPD. Source London North GLH was added to HPD.
Sarah Leigh: Associated with relevant pheno
gene: HPD was added gene: HPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 27604308 Phenotypes for gene: HPD were set to Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)