NAGA

Red NAGA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

Sources

• Emory Genetics Laboratory

Red NAGA in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

Sources

• Literature

Green NAGA in Lysosomal storage disorder

Version 1.78
Latest signed off version: v1.2 (18 Feb 2020)

Sources

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

Phenotypes

• Schindler disease, type I OMIM:609241
• Schindler disease, type III OMIM:609241
• alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221
• Kanzaki disease OMIM:609242
• alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222

Green NAGA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

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

Phenotypes

• Kanzaki disease 609242
• Schindler disease, type I 609241
• Schindler disease, type III 609241

Green NAGA in Inborn errors of metabolism

Version 2.263
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

• Kanzaki disease

Green NAGA in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SCHINDLER DISEASE
• KANZAKI DISEASE

Green NAGA in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SCHINDLER DISEASE 609241
• KANZAKI DISEASE 609242

Green NAGA in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.454

Sources

• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• Kanzaki disease, 609242
• Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI

Green NAGA in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Schindler disease, type I, 609241
• seizures

Green NAGA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241
• KANZAKI DISEASE (KANZD)

Amber NAGA in Hereditary neuropathy NOT PMP22 copy number

Version 1.103
Latest signed off version: v1.36 (5 Aug 2021)

Sources

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

Phenotypes

• Kanzaki disease, 609242
• Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI

Red NAGA in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green NAGA in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Schindler disease, type I, 609241
• Kanzaki disease, 609242
• Schindler disease, type III, 609241