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Prepair 1000+

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

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Mucolipidosis type III gamma is characterised clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localisation, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.

Progressive metabolic disorder with childhood onset.
Created: 13 Mar 2025, 2:57 a.m. | Last Modified: 13 Mar 2025, 2:57 a.m.
Panel Version: 1.1573

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis III gamma, MIM# 252605

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucolipidosis III gamma, 252605 (3) for gene: GNPTG

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNPTG was added gene: GNPTG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)