Congenital muscular dystrophy

Gene: GOLGA2

Amber List (moderate evidence)

GOLGA2 (golgin A2)
EnsemblGeneIds (GRCh38): ENSG00000167110
EnsemblGeneIds (GRCh37): ENSG00000167110
OMIM: 602580, Gene2Phenotype
GOLGA2 is in 1 panel

3 reviews

Ivone Leong (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
secondary dystroglycanopathy

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • Secondary dystroglycanopathy
OMIM
602580
Clinvar variants
Variants in GOLGA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: golga2 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GOLGA2 were set to

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GOLGA2 were changed from to Secondary dystroglycanopathy

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GOLGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GOLGA2.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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