| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 |
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| 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 |
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| 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 |
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