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| Aminoacidopathy v1.74 | PYCR1 | Zornitza Stark Marked gene: PYCR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.74 | PYCR1 | Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.74 | PYCR1 | Zornitza Stark Classified gene: PYCR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.74 | PYCR1 | Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | PYCR1 |
Sangavi Sivagnanasundram gene: PYCR1 was added gene: PYCR1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 19576563; 19648921 Phenotypes for gene: PYCR1 were set to autosomal recessive cutis laxa type 2B MONDO:0013051 Review for gene: PYCR1 was set to GREEN Added comment: Established gene disease association with reported individuals having an inborn error of proline metabolism. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 21/05/2020 https://search.clinicalgenome.org/CCID:005936 Sources: ClinGen |
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