HS6ST2

heparan sulfate 6-O-sulfotransferase 2
OMIM: 300545, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber HS6ST2 in Intellectual disability


Level 2: Developmental disorders
Version 10.18
Latest signed off version: v10.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    Phenotypes
    • ?Paganini-Miozzo syndrome , OMIM:301025
    • Paganini-Miozzo syndrome, MONDO:0026724
    Tags
    • Q2_26_promote_green