Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GMPPB
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, 4:52 p.m. | Last Modified: 2 Sep 2021, 4:52 p.m.
Panel Version: 2.25
Comment on list classification: Often more severe but can present as non-syndromic condition.Created: 29 May 2016, 7:38 p.m.
Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512
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
Publications for gene: GMPPB were set to
Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GMPPB was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen