1. Genes and Genomic Entities
  2. SASS6

SASS6

SAS-6 centriolar assembly protein
OMIM: 609321, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SASS6 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Exper Review Amber
  • PAGE Additional Gene List
Phenotypes
  • ?Microcephaly 14, primary, autosomal recessive 616402