AMBRA1

autophagy and beclin 1 regulator 1
OMIM: 611359, Gene2Phenotype

1 panel

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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