1. Panels
  2. Congenital myopathy
  3. PACSIN3
STRs in panel
Prev Next

Congenital myopathy

Gene: PACSIN3

No list
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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

variants cause childhood-onset myopathy with hyperCKaemia
Created: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.
Panel Version: 7.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 27 May 2026, 9:42 a.m.
Last Modified: 27 May 2026, 9:42 a.m.
Panel version: 7.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
606513
Clinvar variants
Variants in PACSIN3
Penetrance
None
Panels with this gene

History Filter Activity

27 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pacsin3 has been removed from the panel.

27 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PACSIN3 was added gene: PACSIN3 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal