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Osteogenesis imperfecta

Gene: GNPTAB

Red List (low evidence)

GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 panels

2 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer. No expert reviews for this gene to date, and unclear whether a confirmed gene for mucolipidosis should be included on a OI panel.
Created: 12 May 2016, 1:34 p.m.

History Filter Activity

12 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Nov 2015, Gel status: 0

Created

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

GNPTAB was created by [email protected]

27 Nov 2015, Gel status: 0

Added New Source

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

GNPTAB was added to Osteogenesis Imperfectapanel. Sources: Expert Review