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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.68
Latest signed off version: v4.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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