| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.320 | PYCR1 | Bryony Thompson Marked gene: PYCR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.320 | PYCR1 | Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.320 | PYCR1 | Bryony Thompson Classified gene: PYCR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.320 | PYCR1 | Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.319 | PYCR1 |
Bryony Thompson gene: PYCR1 was added gene: PYCR1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 19576563; 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism Review for gene: PYCR1 was set to GREEN gene: PYCR1 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). PYCR1 deficiency causes an inborn error of proline metabolism. Sources: NHS GMS |
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