ARPC4

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ARPC4 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, language impairment, and ocular abnormalities, MIM# 620141

Green ARPC4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, ARPC4-related MONDO#0700092

Green ARPC4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, language impairment, and ocular abnormalities, MIM# 620141

Red ARPC4 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder, ARPC4-related MONDO#0700092