Inherited bleeding disorders

Gene: GNE

Green List (high evidence)

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy associated with thrombocytopenia

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy associated with thrombocytopenia

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

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GNE was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GNE was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GNE was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene