NAGA

alpha-N-acetylgalactosaminidase
OMIM: 104170, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red NAGA in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	Not set	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	review	Not set	Sources Literature
Green NAGA in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	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 1.617	review	BIALLELIC, autosomal or pseudoautosomal	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 Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kanzaki disease
Green NAGA in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SCHINDLER DISEASE KANZAKI DISEASE
Green NAGA in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 1.477	review	BIALLELIC, autosomal or pseudoautosomal	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 Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	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, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green NAGA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Schindler disease, type I, 609241 Kanzaki disease, 609242 Schindler disease, type III, 609241