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  2. Craniosynostosis
  3. GNPTAB
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Craniosynostosis

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)

Recognised complication of I-cell disease.
Sources: Expert list
Created: 3 Jul 2020, 3:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta(I cell disease), MIM# 252500

Publications

Created: 3 Jul 2020, 3:33 a.m.

Panel version: 0.97

History Filter Activity

3 Jul 2020, 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).

3 Jul 2020, 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).

3 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNPTAB was added gene: GNPTAB was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 24891900; 24060719 Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta(I cell disease), MIM# 252500 Review for gene: GNPTAB was set to GREEN