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Fetal anomalies

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

from Genereviews:
ML II is evident at birth. Orthopaedic abnormalities may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s).
All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve.

ML IIIα/β becomes evident at about age three years.

Phenotypes intermediate between ML II and ML IIIα/β are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIα/β
Created: 30 Nov 2021, 1:38 a.m. | Last Modified: 30 Nov 2021, 1:38 a.m.
Panel Version: 0.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mucolipidosis II alpha/beta MIM#252500
  • Mucolipidosis III alpha/beta MIM#252600
OMIM
607840
Clinvar variants
Variants in GNPTAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 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).

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNPTAB were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II to Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600

30 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNPTAB were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNPTAB was added gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II