Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Likely inborn error of metabolism v2.92 PYCR1 Eleanor Williams Source: Expert Review Red was removed from gene: PYCR1
Likely inborn error of metabolism v1.47 PYCR1 Ivone Leong Source NHS GMS was added to PYCR1.
Source London North GLH was added to PYCR1.
Likely inborn error of metabolism 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 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