GPC4

glypican 4
OMIM: 300168, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GPC4 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keipert syndrome OMIM# 301026

Green GPC4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Keipert syndrome OMIM# 301026

Red GPC4 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Simpson-Golabi-Behmel syndrome

Red GPC4 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Simpson-Golabi-Behmel syndrome