1. Genes and Genomic Entities
  2. ANKLE2

ANKLE2

ankyrin repeat and LEM domain containing 2
OMIM: 616062, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ANKLE2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Microcephaly 16, primary, autosomal recessive, OMIM:616681
  • Microcephaly 16, primary, autosomal recessive, MONDO:0014730