Congenital myaesthenic syndrome

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

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Green: 1 Green review (from gene submitter) plus >3 unrelated cases of GMPPB mutations causing congenital myasthenic phenotypes (PMID:26133662/PMID:27147698). Note that OMIM refers to these cases as MDDGC14 (MIM:615352) with features of congenital myasthenic syndrome (CMS).
Created: 6 Feb 2017, 12:37 p.m.
Comment on phenotypes: Mutations in GMPPB cause Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (615350), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (615351) and Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (615352).
Created: 2 Feb 2017, 2:03 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by PMID:26133662 which reports homozygous and compound heterozygous mutations in GMPPB-CMS patients.
Created: 2 Feb 2017, 2:01 p.m.
Belaya et al., 2015 (PMID:26133662) and Rodríguez Cruz et al., 2016 (PMID:27147698) describe work with D. Beeson reporting patients with a subtype of Congenital myasthenic syndrome (CMS) due to mutations in GMPPB. Patients show a predominantly limb-girdle pattern of muscle weakness, with (unlike other forms of CMS) minimal/no facial and occular symptoms. Patients are from 6 different families (5 European and 1 consangineous Iranian family).



Created: 2 Feb 2017, 1:58 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Screening available through Oxford Congenital Myasthenia Service
Created: 27 Jan 2017, 4:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Congenital Myasthenic Syndrome
  • muscular dystrophy-dystroglycanopathy
  • congenital muscular dystrophy with mental retardation
  • GMPPB-CMS
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
  • MDDGC14 with features of CMS
OMIM
615320
Clinvar variants
Variants in GMPPB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GMPPB were set to PMID: 26133662; PMID: 27147698

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 Wessex and West Midlands GLH was added to GMPPB. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

6 Feb 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GMPPB were set to Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GMPPB were set to Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS

2 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GMPPB were set to Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS

27 Jan 2017, Gel status: 0

Created

David Beeson (Oxford University)

GMPPB was created by [email protected]

27 Jan 2017, Gel status: 0

Added New Source

David Beeson (Oxford University)

GMPPB was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing