H2AFY

H2A histone family member Y
OMIM: 610054, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber H2AFY in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Liebenberg syndrome
    • brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
    Tags
    • currently-ngs-unreportable
    • cnv