SNX10

Green SNX10 in Hydrocephalus_Ventriculomegaly

Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Green SNX10 in Macrocephaly_Megalencephaly

Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Green SNX10 in Mendeliome

Version 2.0

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Osteopetrosis, autosomal recessive 8, MIM# 615085

Green SNX10 in Osteopetrosis

Level 2: Skeletal disorders
Version 2.0

Sources

• Expert Review Green
• Expert list
• Victorian Clinical Genetics Services

Phenotypes

• Osteopetrosis, autosomal recessive 8 MIM#615085

Green SNX10 in Callosome

Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Green SNX10 in Defects of intrinsic and innate immunity

Level 2: Immunological disorders
Version 2.0

Sources

• Expert Review Green
• Expert list

Phenotypes

• Osteopetrosis, autosomal recessive 8 MIM#615085

Green SNX10 in Skeletal dysplasia

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

Sources

• Expert Review Green
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• NHS GMS
• Expert list
• Victorian Clinical Genetics Services

Phenotypes

• Osteopetrosis, autosomal recessive 8 615085

Red SNX10 in Fetal anomalies

Version 2.0

Sources

• Expert Review Red
• Genomics England PanelApp

Phenotypes

• Osteopetrosis, autosomal recessive 8, OMIM:615085
• Autosomal recessive osteopetrosis 8, MONDO:0014040

Green SNX10 in Genomic newborn screening: BabyScreen+

Level 2: Screening
Version 2.0

Sources

• Expert Review Green
• Expert list

Phenotypes

• Osteopetrosis, autosomal recessive 8 MIM#615085

Tags

• treatable
• skeletal