Rhabdomyolysis and metabolic muscle disorders

Gene: GMPPB

Amber List (moderate evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 19 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with the phenotype in Gen2Phen (although it has a confirmed association with OMIM:615350). At least nine variants reported in at least eight cases, supportive functional studies were also presented (PMID 23768512;26133662).
Created: 2 Sep 2021, 4:51 p.m. | Last Modified: 2 Sep 2021, 4:51 p.m.
Panel Version: 1.56
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 2 Sep 2021, 4:36 p.m. | Last Modified: 2 Sep 2021, 4:36 p.m.
Panel Version: 1.56

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated cases reported with rhabdomyolysis in the context of this muscle disorder.
Sources: Expert list
Created: 7 Oct 2020, 10:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria

Publications

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

History Filter Activity

2 Sep 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: GMPPB.

2 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gmppb has been classified as Amber List (Moderate Evidence).

2 Sep 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142

2 Sep 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512

2 Sep 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GMPPB were set to 28456886; 27874200; 25681410

2 Sep 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142

7 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GMPPB was added gene: GMPPB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 28456886; 27874200; 25681410 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria Review for gene: GMPPB was set to GREEN gene: GMPPB was marked as current diagnostic