Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Mitochondrial disorders v4.169 XRCC4 Arina Puzriakova Mode of inheritance for gene: XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.169 XRCC4 Arina Puzriakova Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction 616541
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Publications for gene: XRCC4 were set to
Mitochondrial disorders v1.423 XRCC4 Sarah Leigh reviewed gene: XRCC4: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.422 XRCC4 Sarah Leigh gene: XRCC4 was added
gene: XRCC4 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: XRCC4 was set to