1. Genes and Genomic Entities
  2. AMBRA1

AMBRA1

autophagy and beclin 1 regulator 1
OMIM: 611359, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber AMBRA1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neural tube defects
Tags
  • watchlist