HS6ST2:Ensemblv90

heparan sulfate 6-O-sulfotransferase 2
OMIM: 300545, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green HS6ST2 in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • X-linked syndromic intellectual disability MONDO:0020119

Green HS6ST2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • X-linked syndromic intellectual disability MONDO:0020119

Green HS6ST2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • X-linked syndromic intellectual disability MONDO:0020119