Table 2 Genes on commercial laboratory NBS panels considered adult-onset by ASQM
Gene | OMIM phenotype | Inheritance | Outcome considered | Age of onset | Intervention considered | Age of intervention implementation | Severity | Likelihood | Efficacy | Acceptability | Knowledge | Total | ASQM Category |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NF2 | Neurofibromatosis type 2 | AD | Acoustic neuroma and meningiomas | Adulthood | Referral to specialists for surveillance and early management | Adolescent | 1 | 3 | 1 | 3 | 3 | 11 | 3 |
SERPINA1 | Emphysema-cirrhosis, due to AAT deficiency | AR | Syndromic manifestations | Adulthood | Referral to specialists for surveillance and early management | Adulthood | 2 | 3 | 1 | 3 | 3 | 12 | 3 |
HGD | Alkaptonuria | AR | Arthritis | Adulthood | Referral to specialists for surveillance and supportive care | Adulthood | 1 | 3 | 0 | 0 | 3 | 7 | 4 |
NAGA | Kanzaki disease (Schindler’s Disease type II) | AR | Syndromic manifestations | Adolescent/Adult | Referral to specialists for surveillance and supportive care | N/A | 1 | 3 | 0 | 0 | 1 | 5 | 4 |
PRNP | Creutzfeldt-Jakob disease / Huntington disease-like 1 / Prion disease with protracted course/Cerebral amyloid angiopathy, PRNPrelated/Gerstmann-Straussler disease / Insomnia, fatal familial / {Kuru, susceptibility to} | AD | Progressive neurodegeneration | Adulthood | Referral to specialists for surveillance and supportive management | N/A | 2 | 3 | 0 | 0 | 2 | 7 | 4 |