1. Genes and Genomic Entities
  2. ARPC4

ARPC4

actin related protein 2/3 complex subunit 4
OMIM: 604226, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ARPC4 in Severe microcephaly


Level 2: Neurology
Version 8.36
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, language impairment, and ocular abnormalities, OMIM:620141
  • microcephaly, MONDO:0001149
Green ARPC4 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARPC4-related microcephaly and developmental delay