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Fetal anomalies

Gene: SASS6

Amber List (moderate evidence)

SASS6 (SAS-6 centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000156876
EnsemblGeneIds (GRCh37): ENSG00000156876
OMIM: 609321, Gene2Phenotype
SASS6 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Red to Amber to match 'possible' Disease confidence rating in PAGE Additional genes list. Note that SASS6 is not currently associated with a disorder in Gene2Phenotype. Associated with OMIM disorder: ?Microcephaly 14, primary, autosomal recessive, 616402' based on 1 reported family.
Created: 12 Aug 2019, 11:28 a.m. | Last Modified: 12 Aug 2019, 11:28 a.m.
Panel Version: 0.337
DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ?Microcephaly 14, primary, autosomal recessive 616402
OMIM
609321
Clinvar variants
Variants in SASS6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sass6 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SASS6 was added gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 24951542 Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402