Congenital muscular dystrophyGene: GOLGA2
Comment on list classification: Promoted from red to amber. GOLGA2 is not associated with any phenotype on OMIM or Gene2Phenotype. As the case presented in PMID: 30237576 lacked any information about patient family history, it is unclear whether the variant tracks with the phenotype. Therefore, given this gene an amber rating until further evidence is available.
Created: 6 Aug 2019, 10:34 a.m. | Last Modified: 6 Aug 2019, 10:34 a.m.
Panel Version: 1.51
Comment on publications: PMID: 26742501 reported on a consanguineous Saudi family where the proband is diagnosed with a neuromuscular disorder characterized by developmental delay, seizures, microcephaly and muscular dystrophy. The proband is homozygous for a small deletion in the GOLGA2 gene which resulted in a frameshift mutation. The same researchers knocked down zebrafish golga2 and showed that this affected the skeletal muscles of the fish and recapitulated the human phenotype.
PMID: 30237576 is a large, high-throughput Mendelian disease study. One patient with global developmental delay, microcephaly and motor weakness affecting lower extremities. Muscle biopsy showed muscular dystrophy. The patient is homozygous for a different small deletion variant that causes frameshift mutation. No other details are given about family history/pedigree.
Created: 6 Aug 2019, 10:27 a.m. | Last Modified: 6 Aug 2019, 10:27 a.m.
Panel Version: 1.50
After review with Genomics England clinical team this gene was provisionally rated Amber on the basis of one family, as it is difficult to be confident about the extent of the phenotype so amber pending further cases or expert opinion.
Created: 14 Oct 2019, 12:51 p.m. | Last Modified: 14 Oct 2019, 12:51 p.m.
Panel Version: 1.63
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: golga2 has been classified as Amber List (Moderate Evidence).
Publications for gene: GOLGA2 were set to
Phenotypes for gene: GOLGA2 were changed from to Secondary dystroglycanopathy
Mode of inheritance for gene: GOLGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to GOLGA2.
gene: GOLGA2 was added gene: GOLGA2 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: GOLGA2 was set to