Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mitochondrial disorders v1.444 | PAM16 | Sarah Leigh Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.444 | PAM16 | Sarah Leigh Publications for gene: PAM16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.423 | PAM16 | Sarah Leigh reviewed gene: PAM16: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.422 | PAM16 |
Sarah Leigh gene: PAM16 was added gene: PAM16 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PAM16 was set to |