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  3. PACSIN3
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Fetal anomalies

Gene: PACSIN3

Red List (low evidence)
PACSIN3 (protein kinase C and casein kinase substrate in neurons 3)
EnsemblGeneIds (GRCh38): ENSG00000165912
EnsemblGeneIds (GRCh37): ENSG00000165912
OMIM: 606513, Gene2Phenotype
PACSIN3 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

Red List (low evidence)

Not currently on any UK PanelApp panels. Amber on Australian Muscular dysophy and myopathy and Rhabdomyolysis and Metabolic Myopathy panels. Patients reported by Distelmaier et al (2024) had childhood-onset myopathy. No prenatal phenotype reported.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 27, OMIM:621343

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Congenital myopathy 27, OMIM:621343
OMIM
606513
Clinvar variants
Variants in PACSIN3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Congenital myopathy 27, OMIM:621343 for gene: PACSIN3

9 Mar 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 Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal