SASS6

SAS-6 centriolar assembly protein
OMIM: 609321, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SASS6 in Severe microcephaly


Level 2: Neurology
Version 8.36
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Literature
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, OMIM:616402
Green SASS6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Exper Review Amber
  • PAGE Additional Gene List
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, OMIM:616402
Green SASS6 in DDG2P


Version 6.447
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
    • SASS6-related severe microcephaly with brain abnormalities