1. Panels
  2. Rhabdomyolysis and Metabolic Myopathy
  3. PACSIN3
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Rhabdomyolysis and Metabolic Myopathy

Gene: PACSIN3

Amber List (moderate evidence)
PACSIN3 (protein kinase C and casein kinase substrate in neurons 3)
EnsemblGeneIds (GRCh38): ENSG00000165912
EnsemblGeneIds (GRCh37): ENSG00000165912
OMIM: 606513, Gene2Phenotype
PACSIN3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model.
Sources: Literature
Created: 23 Apr 2024, 4:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, MONDO:0005336, PACSIN3-related

Publications

Created: 23 Apr 2024, 4:53 a.m.

Panel version: 1.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
OMIM
606513
Clinvar variants
Variants in PACSIN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pacsin3 has been classified as Amber List (Moderate Evidence).

23 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pacsin3 has been classified as Amber List (Moderate Evidence).

23 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PACSIN3 was added gene: PACSIN3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PACSIN3 were set to 38637313 Phenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related Review for gene: PACSIN3 was set to AMBER