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Likely inborn error of metabolism - targeted testing not possible v2.92 | PYCR1 | Eleanor Williams Source: Expert Review Red was removed from gene: PYCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | PYCR1 |
Ivone Leong Source NHS GMS was added to PYCR1. Source London North GLH was added to PYCR1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYCR1 | Ellen McDonagh Added phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 for gene: PYCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PYCR1 |
Ellen McDonagh gene: PYCR1 was added gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940 |