CHST11

carbohydrate sulfotransferase 11
OMIM: 610128, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CHST11 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Tags
  • SV/CNV

Amber CHST11 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Tags
  • SV/CNV

Amber CHST11 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167