SMC5

structural maintenance of chromosomes 5
OMIM: 609386, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SMC5 in Severe microcephaly


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Atelis syndrome 2, OMIM:620185
Green SMC5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.176
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atelis syndrome 2, OMIM:620185
Green SMC5 in DDG2P


Version 6.439
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMC5-related developmental disorder
    Green SMC5 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Atelis syndrome 2, OMIM:620185