1. Panels
  2. Syndromic Retinopathy
  3. GNPTG
STRs in panel
Prev Next
Regions in panel
Prev Next

Syndromic Retinopathy

Gene: GNPTG

Green List (high evidence)
GNPTG (N-acetylglucosamine-1-phosphate transferase gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000090581
EnsemblGeneIds (GRCh37): ENSG00000090581
OMIM: 607838, Gene2Phenotype
GNPTG is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.
Created: 9 Apr 2021, 9:48 a.m. | Last Modified: 9 Apr 2021, 9:48 a.m.
Panel Version: 0.7094

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis III gamma, MIM# 252605; MONDO:0009652

Publications

Created: 9 Apr 2021, 9:48 a.m.
Last Modified: 9 Apr 2021, 9:48 a.m.
Panel version: Imported from Mendeliome panel version 0.7094

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis III gamma
  • Genetic Retinal Degeneration Conditions
OMIM
607838
Clinvar variants
Variants in GNPTG
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GNPTG was added gene: GNPTG was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma; Genetic Retinal Degeneration Conditions