SASS6

SAS-6 centriolar assembly protein
OMIM: 609321, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SASS6 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, MIM# 616402

Green SASS6 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, MIM# 616402

Green SASS6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, MIM# 616402

Green SASS6 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 14, primary, autosomal recessive, MIM# 616402