Genomics England
GMS Panels
Panels
Genes and Entities

NAGA

alpha-N-acetylgalactosaminidase
OMIM: 104170
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE 609241, KANZAKI DISEASE 609242
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I, 609241, seizures
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHINDLER DISEASE, KANZAKI DISEASE
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241, KANZAKI DISEASE (KANZD)
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kanzaki disease
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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