HECTD1

HECT domain E3 ubiquitin protein ligase 1
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber HECTD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092