Genomics England
GMS Panels
Panels
Genes and Entities

SASS6

SAS-6 centriolar assembly protein
OMIM: 609321
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SASS6-related severe microcephaly with brain abnormalities
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 14, primary, autosomal recessive, OMIM:616402
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 14, primary, autosomal recessive, OMIM:616402