AMBRA1

autophagy and beclin 1 regulator 1
OMIM: 611359, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green AMBRA1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related

Green AMBRA1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neural tube defects