Living individual affected (proband) where the individual history meets:
a. ≥ 1 major OR
b. ≥ 2 minor criteria
2. Major criteria:
• Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger
than age 20 years
• Jaw keratocyst: odontogenic keratocyst histologically
• Palmar/plantar pits (two or more)
• SHH medulloblastoma, confirmed on tumour testing
• Multiple basal cell carcinomas (BCCs) (>5 under 50)
3. Minor criteria:
• Childhood medulloblastoma where SHH pathway in tumour has not been investigated (also called
primitive neuroectodermal tumor [PNET])
• Lympho-mesenteric or pleural cysts
• Macrocephaly (OFC >97th centile)
• Cleft lip/palate
• Vertebral/rib anomalies observed on chest x-ray and/or spinal x-ray; bifid/splayed/extra ribs; bifid
vertebrae
• Preaxial or postaxial polydactyly
• Ovarian/cardiac fibromas
• Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.

Living individual affected (proband) where the individual history meets:
a. ≥ 1 major OR
b. ≥ 2 minor criteria
2. Major criteria:
• Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger
than age 20 years
• Jaw keratocyst: odontogenic keratocyst histologically
• Palmar/plantar pits (two or more)
• SHH medulloblastoma, confirmed on tumour testing
• Multiple basal cell carcinomas (BCCs) (>5 under 50)
3. Minor criteria:
• Childhood medulloblastoma where SHH pathway in tumour has not been investigated (also called
primitive neuroectodermal tumor [PNET])
• Lympho-mesenteric or pleural cysts
• Macrocephaly (OFC >97th centile)
• Cleft lip/palate
• Vertebral/rib anomalies observed on chest x-ray and/or spinal x-ray; bifid/splayed/extra ribs; bifid
vertebrae
• Preaxial or postaxial polydactyly
• Ovarian/cardiac fibromas
• Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.