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  3. GNPTAB
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies.
Sources: Literature
Created: 2 Nov 2022, 2:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta - MIM#252500

Publications

Created: 2 Nov 2022, 2:28 a.m.

Panel version: 0.163

History Filter Activity

2 Nov 2022, 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).

2 Nov 2022, 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).

2 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: GNPTAB was added gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 20301728 Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500 Review for gene: GNPTAB was set to GREEN