PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Miscellaneous Metabolic Disorders v2.0 HGD Gene migrated from ENSG00000113924 to ENSG00000113924 (gene set migration)
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.301 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 27604308; 15385440
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias
Review for gene: L2HGDH was set to GREEN
gene: L2HGDH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). L-2-hydroxyglutaric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an organic aciduria.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.288 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 24836451; 25152457; 11055895; 19235232
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to GREEN
Added comment: Well established gene-disease association, severity depends on amount of residual enzyme activity.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Marked gene: HGD as ready
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Classified gene: HGD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.184 HGD Bryony Thompson gene: HGD was added
gene: HGD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 8782815; 27604308
Phenotypes for gene: HGD were set to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Review for gene: HGD was set to GREEN
gene: HGD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Alkaptonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS