Coarse facial features including Coffin-Siris-like disorders

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

1 review

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

GNPTAB was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

GNPTAB was created by alicegardham