| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary Tumour v2.2 | PAM | chirag patel Marked gene: PAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary Tumour v2.2 | PAM | chirag patel Gene: pam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary Tumour v2.2 | PAM | chirag patel Classified gene: PAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary Tumour v2.2 | PAM | chirag patel Gene: pam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary Tumour v2.1 | PAM |
chirag patel gene: PAM was added gene: PAM was added to Pituitary Tumour. Sources: Literature Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAM were set to 37388215 Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373 Review for gene: PAM was set to AMBER Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples. Sources: Literature |
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