Genomics England
GMS Panels
Panels
Genes and Entities

ARPC4

actin related protein 2/3 complex subunit 4
OMIM: 604226
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARPC4-related microcephaly and developmental delay
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay, language impairment, and ocular abnormalities, OMIM:620141, microcephaly, MONDO:0001149