Hereditary Neuropathy_CMT - isolated

Gene: ARPC3

Amber List (moderate evidence)

ARPC3 (actin related protein 2/3 complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000111229
EnsemblGeneIds (GRCh37): ENSG00000111229
OMIM: 604225, Gene2Phenotype
ARPC3 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Presumably same patients identified in this publication which also uses the GeL 100K dataset. No additional data such as segregation to support pathogenicity.
Created: 3 Mar 2025, 5:37 a.m. | Last Modified: 3 Mar 2025, 5:37 a.m.
Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Posterior probability association (PPA) 0.995 for Charcot-Marie Tooth disease under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 549 CMT cases and 54,856 controls used in BeviMed analysis. 5 rare variants (missense, splice region, a splice acceptor site) enriched in the CMT cohort (n=14). Additionally, ArpC3 conditional knockout mice fail to ensheath axons causing axon dysfunction.
Sources: Literature
Created: 4 Dec 2024, 12:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease MONDO:0015626
OMIM
604225
Clinvar variants
Variants in ARPC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARPC3 were set to 36928819; 26166300

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arpc3 has been classified as Amber List (Moderate Evidence).

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arpc3 has been classified as Amber List (Moderate Evidence).

4 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARPC3 was added gene: ARPC3 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPC3 were set to 36928819; 26166300 Phenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626 Review for gene: ARPC3 was set to AMBER