Congenital 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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and evidence, is a green gene on the Congenital disorders of glycosylation version 1.0 and Limb girdle muscular dystrophy version 1.0 gene panels.
Created: 6 Jan 2017, 9:32 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
OMIM
615320
Clinvar variants
Variants in GMPPB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GMPPB were changed from 23768512; 26133662 to 26133662; 23768512

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GMPPB.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to GMPPB. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14

6 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GMPPB were set to 23768512;26133662

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GMPPB was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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