PAX7

Red PAX7 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.5

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 1.25

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 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert Review

Phenotypes

• Myopathy, congenital, progressive, with scoliosis, OMIM:618578

Green PAX7 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Myopathy, congenital, progressive, with scoliosis, OMIM:618578
• Myopathy, congenital, progressive, with scoliosis, MONDO:0032821

Red PAX7 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

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 1.81
Latest signed off version: v1.2 (18 Feb 2020)

Sources

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

Phenotypes

• Rhabdomyosarcoma 2, alveolar, OMIM:268220