ABHD5

Amber ABHD5 in Ichthyosis and erythrokeratoderma

Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Chanarin-Dorfman syndrome, OMIM:275630

Tags

• Q1_24_promote_green
• Q1_24_NHS_review

Green ABHD5 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Chanarin-Dorfman syndrome, OMIM:275630

Green ABHD5 in Palmoplantar keratodermas

Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Chanarin-Dorfman syndrome, OMIM:275630

Red ABHD5 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Red
• Expert list

Phenotypes

• Chanarin-Dorfman syndrome 275630

Amber ABHD5 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
• Literature

Phenotypes

• Chanarin-Dorfman syndrome, OMIM:275630

Tags

• Q4_23_promote_green
• Q4_23_NHS_review

Green ABHD5 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

• Neutral lipid storage disease (Disorders of lipolysis)
• Chanarin-Dorfman syndrome 275630

Green ABHD5 in Likely inborn error of metabolism - targeted testing not possible

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Chanarin-Dorfman syndrome 275630
• Neutral lipid storage disease (Disorders of lipolysis)

Green ABHD5 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CHANARIN-DORFMAN SYNDROME

Green ABHD5 in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CHANARIN-DORFMAN SYNDROME 275630

Red ABHD5 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Phenotypes

• hearing loss

Green ABHD5 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Chanarin-Dorfman syndrome, OMIM:275630

Red ABHD5 in Childhood onset dystonia, chorea or related movement disorder

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

Sources

• Expert Review Red
• London North GLH

Green ABHD5 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Chanarin-Dorfman syndrome, 275630