ARSA

Red ARSA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

Sources

• Emory Genetics Laboratory

Phenotypes

• Metachromatic leukodystrophy 250100

Red ARSA in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia

Green ARSA in White matter disorders and cerebral calcification - narrow panel

Version 1.180
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Metachromatic leukodystrophy, 250100
• Arylsulfatase A Deficiency

Green ARSA in Ataxia and cerebellar anomalies - narrow panel

Version 2.192
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Metachromatic leukodystrophy (#250100)

Green ARSA in Lysosomal storage disorder

Version 1.74
Latest signed off version: v1.2 (18 Feb 2020)

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• North London GLH

Phenotypes

• Metachromatic leukodystrophy OMIM:250100
• metachromatic leukodystrophy, juvenile form MONDO:0009591

Green ARSA in White matter disorders - adult onset

Version 1.15
Latest signed off version: v1.6 (15 Oct 2020)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Metachromatic leukodystrophy, 250100

Green ARSA in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.223

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Metachromatic leukodystrophy (#250100)

Green ARSA in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.125

Sources

• Expert Review Green
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen

Phenotypes

• Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100

Green ARSA in Neurodegenerative disorders - adult onset

Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

Sources

• Wessex and West Midlands GLH
• Yorkshire and North East GLH
• NHS GMS
• London North GLH
• Expert Review Green

Phenotypes

• Metachromatic leukodystrophy, OMIM:250100
• Dystonia

Green ARSA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.460

Sources

• UKGTN
• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Literature

Phenotypes

• Metachromatic leukodystrophy 250100

Green ARSA in Inborn errors of metabolism

Version 2.141
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Metachromatic leukodystrophy

Green ARSA in Fetal anomalies

Version 1.674
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARYLSULFATASE A DEFICIENCY

Green ARSA in DDG2P

Version 2.27
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARYLSULFATASE A DEFICIENCY 250100

Green ARSA in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.385

Sources

• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• Metachromatic leukodystrophy, 250100
• Severe late infantile form with mental retardation and severe course. Regression before 30 months
• adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy

Green ARSA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1126
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• ARYLSULFATASE A DEFICIENCY

Green ARSA in Hereditary ataxia - adult onset

Version 2.73
Latest signed off version: v2.13 (6 Oct 2020)

Sources

• London North GLH
• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• Hereditary ataxia v1.148

Phenotypes

• Metachromatic leukodystrophy (#250100)
• Metachromatic Leukodystrophy, 250100

Amber ARSA in Adult onset movement disorder

Version 1.121
Latest signed off version: v1.14 (15 Oct 2020)

Sources

• Expert Review Amber
• NHS GMS
• South West GLH

Phenotypes

• Metachromatic leukodystrophy, OMIM:250100

Amber ARSA in Hereditary neuropathy NOT PMP22 copy number

Version 1.25
Latest signed off version: v1.2 (27 Feb 2020)

Sources

• Expert Review Amber
• London North GLH
• NHS GMS
• NHS GMS
• London North GLH

Phenotypes

• Severe late infantile form with mental retardation and severe course. Regression before 30 months
• adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
• Metachromatic leukodystrophy, 250100

Green ARSA in Childhood onset dystonia or chorea or related movement disorder

Version 1.130
Latest signed off version: v1.58 (6 Oct 2020)

Sources

• South West GLH
• Expert Review Green
• London North GLH

Phenotypes

• Metachromatic leukodystrophy, 250100

Green ARSA in Severe Paediatric Disorders

Version 1.78

Sources

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

Phenotypes

• Metachromatic leukodystrophy, 250100