SNX10

Green SNX10 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Green
• IUIS Classification December 2019
• IUIS Classification February 2018
• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Osteopetrosis with visual impairment
• Defects in intrinsic and innate immunity
• Defects in Intrinsic and Innate Immunity

Green SNX10 in Hydrocephalus

Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Osteopetrosis, autosomal recessive 8, OMIM:615085

Red SNX10 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Defects in Intrinsic and Innate Immunity
• Osteopetrosis with visual impairment
• Defects in intrinsic and innate immunity

Green SNX10 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Expert list
• Radboud University Medical Center, Nijmegen

Phenotypes

• Osteopetrosis, autosomal recessive 8 615085

Green SNX10 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

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

Green SNX10 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Osteopetrosis, autosomal recessive 8, 615085

Green SNX10 in Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.34
Latest signed off version: v1.1 (21 Sep 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Osteopetrosis, autosomal recessive 8 OMIM:615085