PAX7

Green PAX7 in Neuromuscular disorders

Version 5.92
Signed off v.5.43 on 4 Mar 2020

Sources

• Expert Review Green
• Literature

Phenotypes

• Hypotonia
• Axial hypotonia
• Ptosis
• Scoliosis
• Delayed motor milestones
• Myopathy, congenital, progressive, with scoliosis, 618578

Red PAX7 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• Rhabdomyosarcoma 2, alveolar, 268220

Red PAX7 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• Rhabdomyosarcoma 2, alveolar, 268220

Green PAX7 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.20
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert Review

Phenotypes

• Hypotonia
• Axial hypotonia
• Ptosis
• Scoliosis
• Delayed motor milestones
• Myopathy, congenital, progressive, with scoliosis, 618578

Red PAX7 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.716
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

Sources

• Expert Review Red
• Victorian Clinical Genetics Services

Phenotypes

• Hypotonia
• Axial hypotonia
• Ptosis
• Scoliosis
• Delayed motor milestones
• Myopathy, congenital, progressive, with scoliosis, 618578

Red PAX7 in Sarcoma susceptibility

Version 1.5
Signed off v.1.2 on 18 Feb 2020

Sources

• NHS GMS
• Expert Review Red
• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• Rhabdomyosarcoma 2, alveolar, 268220