Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: BVES

Green List (high evidence)

The new-gene-name tag was added as the HGNC approved gene name is POPDC1.

Created: 11 Dec 2024, 10:23 a.m. | Last Modified: 11 Dec 2024, 10:23 a.m.

Panel Version: 4.40

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 5 Dec 2024, 5:12 p.m. | Last Modified: 5 Dec 2024, 5:12 p.m.

Panel Version: 4.40

Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major review. All these patients showed limb-girdle muscular weakness/ dystrophy.

Created: 2 May 2023, 7:17 p.m. | Last Modified: 2 May 2023, 7:19 p.m.

Panel Version: 4.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25, OMIM:616812

Publications

• 26642364
• 31119192
• 32528171

Green List (high evidence)

PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.

Created: 29 Jun 2020, 10:24 a.m. | Last Modified: 29 Jun 2020, 10:24 a.m.

Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25 616812

Publications

• 26642364
• 32528171
• 31119192

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

Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.

Created: 28 Nov 2019, 5:29 p.m. | Last Modified: 28 Nov 2019, 5:29 p.m.

Panel Version: 1.179

Red List (low evidence)

only reported in one family

Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb girdle muscular dystrophy; cardiac arrhythmia

Publications

• 26642364

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 30 Apr 2019, 11:45 a.m.

Red List (low evidence)

Unable to find any evidence of clear LGMD association.

Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, type 2X, 616812

Publications

• 26642364

Green List (high evidence)

Initially given an LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.

Created: 29 Mar 2019, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb girdle muscular dystrophy; cardiac arrhythmia

Publications

• PMID: 26642364

Red List (low evidence)

Comment when marking as ready: One variant identified in the homozygous state (2016)

Created: 26 Jul 2016, 8:10 a.m.

One variant identified in the homozygous state

Created: 26 Jul 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal