1. Genes and Genomic Entities
  2. ANKLE2

ANKLE2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ANKLE2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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
Amber ANKLE2 in Fetal anomalies


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

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