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Likely inborn error of metabolism - targeted testing not possible v1.150 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.150 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD | Sarah Leigh Classified gene: HPD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD |
Sarah Leigh Added comment: Comment 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). |
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Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD | Sarah Leigh Gene: hpd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.148 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.147 | HPD | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.147 | HPD | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.147 | HPD | Sarah Leigh Phenotypes for gene: HPD were changed from Hawkinsinuria 140350; Tyrosinemia, type III 276710 to Hawkinsinuria 140350; Tyrosinemia, type III 276710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.147 | HPD | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.147 | HPD | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | HPD |
Ivone Leong Source NHS GMS was added to HPD. Source London North GLH was added to HPD. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPD |
Ellen McDonagh 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) |