TYROBP

Green TYROBP in Early-onset Dementia

Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Sources

• Victorian Clinical Genetics Services
• Melbourne Genomics Health Alliance Complex Neurology Flagship
• Expert Review Green

Phenotypes

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)

Green TYROBP in Brain Calcification

Level 2: Neurology and neurodevelopmental disorders
Version 3.0

Sources

• Expert list
• Expert Review Green

Phenotypes

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770

Green TYROBP in Macrocephaly_Megalencephaly

Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Red TYROBP in Osteopetrosis

Level 2: Skeletal disorders
Version 1.0

Sources

• Victorian Clinical Genetics Services
• Expert Review Red

Phenotypes

• polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749

Green TYROBP in Regression

Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Green TYROBP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

Sources

• Victorian Clinical Genetics Services
• Emory Genetics Laboratory
• NHS GMS
• Expert Review Green
• Expert Review Green

Phenotypes

• Nasu-Hakola disease 221770

Green TYROBP in Leukodystrophy - adult onset

Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Sources

• Royal Melbourne Hospital
• Expert Review Green

Phenotypes

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770