Congenital myaesthenic syndrome
Gene: GMPPBComment on phenotypes: This phenotype includes features of congenital myasthenic syndrome (in some patients) according to OMIM:615352.Created: 2 Sep 2021, 5:13 p.m. | Last Modified: 2 Sep 2021, 5:13 p.m.
Panel Version: 2.38
Comment on phenotypes: Previous 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 CMSCreated: 22 Mar 2021, 1:56 p.m. | Last Modified: 22 Mar 2021, 1:56 p.m.
Panel Version: 2.25
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.
see PanelAppCreated: 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
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.
Screening available through Oxford Congenital Myasthenia ServiceCreated: 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
Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome, MONDO:0018940 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Phenotypes for gene: GMPPB were changed from 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 to Congenital Myasthenic Syndrome, MONDO:0018940
Publications for gene: GMPPB were set to PMID: 26133662; PMID: 27147698
Source NHS GMS was added to GMPPB.
Source Wessex and West Midlands GLH was added to GMPPB. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
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
This gene has been classified as Green List (High Evidence).
Phenotypes for GMPPB were set to Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS
Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for GMPPB were set to Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS
GMPPB was created by [email protected]
GMPPB was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing