PYROXD1

Amber PYROXD1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature

Phenotypes

• muscular dystrophy

Tags

• Q2_23_promote_green
• Q2_23_NHS_review

Green PYROXD1 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

• Expert Review Green
• Expert Review

Phenotypes

• Myopathy, myofibrillar, 8, OMIM:617258

Amber PYROXD1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Myopathy, myofibrillar, 8, 617258
• adult-onset limb girdle muscular dystrophy

Tags

• Q2_23_promote_green

Amber PYROXD1 in Fetal anomalies

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

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Green PYROXD1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization