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Severe Paediatric Disorders

Gene: NAGA

Green List (high evidence)

NAGA (alpha-N-acetylgalactosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000198951
EnsemblGeneIds (GRCh37): ENSG00000198951
OMIM: 104170, Gene2Phenotype
NAGA is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NAGA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Kanzaki disease, 609242 (3) | Schindler disease, type I, 609241 (3) | Schindler disease, type III, 609241 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
104170
Clinvar variants
Variants in NAGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NAGA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kanzaki disease, 609242; Schindler disease, type III, 609241; Schindler disease, type I, 609241 for gene: NAGA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kanzaki disease, 609242; Schindler disease, type III, 609241; Schindler disease, type I, 609241 for gene: NAGA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kanzaki disease, 609242; Schindler disease, type III, 609241; Schindler disease, type I, 609241 for gene: NAGA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Schindler disease, type I, 609241; Kanzaki disease, 609242; Schindler disease, type III, 609241 for gene: NAGA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to NAGA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NAGA. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NAGA was added gene: NAGA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NAGA was set to