| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.12 | CDC73 | Zornitza Stark Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.12 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.12 | CDC73 | Zornitza Stark Classified gene: CDC73 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.12 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.11 | CDC73 |
Zornitza Stark gene: CDC73 was added gene: CDC73 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000 Review for gene: CDC73 was set to GREEN Added comment: CDC73-related conditions are considered as a spectrum that includes three phenotypes: HPRT2; hyperparathyroidism 1 (HPRT1; also known as familial isolated hyperparathyroidism or FIHP) and parathyroid carcinoma (PC). To establish the extent of disease and needs in an individual initially diagnosed with HRPT2, the following are recommended: •Evaluation for jaw tumors with panoramic jaw x-ray •Evaluation for renal lesions with ultrasound examination •Evaluation of standard skeletal and renal end organ damage of pHPT •Evaluation for uterine tumors with pelvic ultrasound examination, CT, or MRI (starting at reproductive age). Individuals newly diagnosed with any CDC73-related condition who have evidence of pHPT should be evaluated using a 24-hour urine calcium-to-creatinine clearance ratio. Hypercalcemic individuals (including asymptomatic) with pathogenic variants in CDC73 should be evaluated for pHPT (concomitant calcium and intact [i]PTH levels) and should be managed in consultation with an endocrinologist, with consideration given to referral to a high-volume parathyroid surgeon. Sources: Expert list |
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