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Likely inborn error of metabolism v8.100 HPDL Ida Ertmanska Tag gene-checked was removed from gene: HPDL.
Likely inborn error of metabolism v8.94 HPDL Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: HPDL.
Likely inborn error of metabolism v8.94 HPDL Achchuthan Shanmugasundram commented on gene: HPDL: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.93 HPDL Achchuthan Shanmugasundram Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v8.92 HPDL Achchuthan Shanmugasundram edited their review of gene: HPDL: Changed rating: GREEN
Likely inborn error of metabolism v8.24 HPDL Achchuthan Shanmugasundram changed review comment from: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.; to: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating on this panel in the next GMS update.
Likely inborn error of metabolism v8.23 HPDL Achchuthan Shanmugasundram changed review comment from: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.; to: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.
Likely inborn error of metabolism v8.23 HPDL Achchuthan Shanmugasundram Classified gene: HPDL as Amber List (moderate evidence)
Likely inborn error of metabolism v8.23 HPDL Achchuthan Shanmugasundram Added comment: Comment on list classification: HPDL has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/HPDL/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association and HPDL is suggested to have a potential role in mitochondrial metabolism, this gene can be promoted to green rating in this panel in the next GMS update.
Likely inborn error of metabolism v8.23 HPDL Achchuthan Shanmugasundram Gene: hpdl has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.22 HPDL Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: HPDL.
Likely inborn error of metabolism v8.22 HPDL Achchuthan Shanmugasundram gene: HPDL was added
gene: HPDL was added to Likely inborn error of metabolism. Sources: Literature,NHS GMS,Expert Review Green
gene-checked tags were added to gene: HPDL.
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027
Likely inborn error of metabolism v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Classified gene: HPD as Green List (high evidence)
Likely inborn error of metabolism 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).
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Gene: hpd has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.148 HPD Sarah Leigh Publications for gene: HPD were set to 27604308
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Deleted their comment
Likely inborn error of metabolism 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 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 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 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 v1.47 HPD Ivone Leong Source NHS GMS was added to HPD.
Source London North GLH was added to HPD.
Likely inborn error of metabolism 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)