Limb girdle muscular dystrophy

Gene: GMPPB

Green List (high evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Often more severe but can present as non-syndromic condition.
Created: 29 May 2016, 7:38 p.m.

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GMPPB was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen