Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Classified gene: PAM16 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.121 PAM16 Krithika Murali gene: PAM16 was added
gene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Review for gene: PAM16 was set to GREEN
Added comment: Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features.
Sources: Literature, Expert list