Hereditary Neuropathy_CMT - isolated
Gene: ARPC3
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
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: LiteratureCreated: 4 Dec 2024, 12:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626
Publications
Publications for gene: ARPC3 were set to 36928819; 26166300
Gene: arpc3 has been classified as Amber List (Moderate Evidence).
Gene: arpc3 has been classified as Amber List (Moderate Evidence).
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