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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POPDC3

POPDC3 (popeye domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000132429
EnsemblGeneIds (GRCh37): ENSG00000132429
OMIM: 605824, Gene2Phenotype
POPDC3 is in 1 panel

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Dec 2024, 5:12 p.m.
Last Modified: 5 Dec 2024, 5:12 p.m.
Panel version: 4.40

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2024, 12:05 p.m.
Last Modified: 1 Feb 2024, 12:05 p.m.
Panel version: 4.29

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

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

Created: 16 Nov 2023, 2:15 p.m.
Last Modified: 16 Nov 2023, 2:15 p.m.
Panel version: 4.24

Arina Puzriakova (Genomics England Curator)

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

31610034

Created: 29 Sep 2021, 11:04 a.m.
Last Modified: 29 Sep 2021, 11:04 a.m.
Panel version: 2.27

Agnese Zarina (Rīga Stradiņš Univeristy)

I don't know

Sources: Literature
Created: 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

https://doi.org/10.1002/ana.25620

Created: 17 Jun 2021, 11:12 a.m.

Panel version: 2.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014

OMIM

605824

Clinvar variants

Variants in POPDC3

Penetrance

None

Publications

Panels with this gene

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: POPDC3. Tag Q1_24_NHS_review was removed from gene: POPDC3.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to POPDC3. Source Expert Review Green was added to POPDC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: popdc3 has been classified as Amber List (Moderate Evidence).

1 Feb 2024, Gel status: 2

Removed Tag, Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

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.

1 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

1 Feb 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: POPDC3 were set to 31610034

29 Sep 2021, Gel status: 2