Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POPDC3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 1 Feb 2024, 12:07 p.m. | Last Modified: 1 Feb 2024, 12:07 p.m.
Panel Version: 4.30
POPDC3 variants have been associated with Muscular dystrophy, limb-girdle, autosomal recessive 26 (OMIM:618848), but not with a phenotype in Gen2Phen. Six POPDC3 have been identified in six unrelated cases, supportive functional studies have also been presented, including a knockdown zebra fish model and mRNA sequencing to characterize splicing variants (PMID: 31610034; 35075722; 35842834; 37104941).Created: 1 Feb 2024, 12:05 p.m. | Last Modified: 1 Feb 2024, 12:05 p.m.
Panel Version: 4.29
Three new families reported, all with novel homozygous variants in this gene (PMID: 35075722, PMID: 35842834, PMID: 37104941)Created: 16 Nov 2023, 2:15 p.m. | Last Modified: 16 Nov 2023, 2:15 p.m.
Panel Version: 4.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 26
Publications
Comment on list classification: Since the initial report no further cohorts have been released validating POPDC3 variants in limb girdle muscular dystrophy. Given this and the lack of complete segregation studies, rating as Amber awaiting further evidence.Created: 29 Sep 2021, 11:05 a.m. | Last Modified: 29 Sep 2021, 11:05 a.m.
Panel Version: 2.28
Vissing et al., 2019 (PMID: 31610034) reported on 5 patients from 3 unrelated consanguineous families with limb girdle weakness who harboured private variants in this gene. The variants were homozygous in affected individuals and heterozygous in unaffected family members that were available for testing - but segregation analysis was not performed in one family and was incomplete in the remaining two (fathers unavailable). Knockdown of popdc3 in zebrafish resulted in larvae with tail curling and dystrophic muscle features.Created: 29 Sep 2021, 11:04 a.m. | Last Modified: 29 Sep 2021, 11:04 a.m.
Panel Version: 2.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
Publications
Sources: LiteratureCreated: 17 Jun 2021, 11:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 26
Publications
Gene: popdc3 has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: POPDC3. Tag Q1_24_promote_green tag was added to gene: POPDC3. Tag Q1_24_NHS_review tag was added to gene: POPDC3.
Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848; muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014
Publications for gene: POPDC3 were set to 31610034
Tag watchlist tag was added to gene: POPDC3.
Mode of inheritance for gene: POPDC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: popdc3 has been classified as Amber List (Moderate Evidence).
Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620
Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
gene: POPDC3 was added gene: POPDC3 was added to Limb girdle muscular dystrophy. Sources: Literature Mode of inheritance for gene: POPDC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620 Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26 Review for gene: POPDC3 was set to AMBER