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  2. Lysosomal Storage Disorder
  3. GNPTAB
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Lysosomal Storage Disorder

Gene: GNPTAB

Green List (high evidence)
GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 9 Apr 2021, 4:27 a.m. | Last Modified: 9 Apr 2021, 4:27 a.m.
Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931

Publications

Created: 9 Apr 2021, 4:27 a.m.
Last Modified: 9 Apr 2021, 4:27 a.m.
Panel version: 0.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis II alpha/beta, MIM# 252500
  • MONDO:0009650
  • Mucolipidosis III alpha/beta, MIM# 252600
  • MONDO:0018931
OMIM
607840
Clinvar variants
Variants in GNPTAB
Penetrance
None
Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnptab has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931

9 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNPTAB was added gene: GNPTAB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPTAB was set to Unknown