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Fetal anomalies

Gene: SASS6

Green List (high evidence)
SASS6 (SAS-6 centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000156876
EnsemblGeneIds (GRCh37): ENSG00000156876
OMIM: 609321, Gene2Phenotype
SASS6 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R88. Two papers on severe prenatal phenotype. Microcephaly, fetal growth restriction, corpus callosum abnormalities.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 14, primary, autosomal recessive, MIM#616402

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

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

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
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
OMIM
609321
Clinvar variants
Variants in SASS6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: SASS6. Tag Q1_25_ promote_green was removed from gene: SASS6.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SASS6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: SASS6. Tag Q1_25_ promote_green tag was added to gene: SASS6.

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, OMIM:616402; ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SASS6. Added phenotypes Microcephaly 14, primary, autosomal recessive, OMIM:616402 for gene: SASS6 Publications for gene: SASS6 were updated from 24951542 to 38501757; 24951542; 30639237; 36739862

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