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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SASS6-related severe microcephaly with brain abnormalities are moderate, biallelic_autosomal and undetermined (PMIDs: 24951542, 30639237, 36739862, 38501757). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03564.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SASS6-related severe microcephaly with brain abnormalities is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 30639237;36739862;24951542;38501757).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0014623; SASS6-related severe microcephaly with brain abnormalities; OMIM:616402.0

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SASS6-related severe microcephaly with brain abnormalities
OMIM
609321
Clinvar variants
Variants in SASS6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SASS6 was changed from Other to None

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SASS6 was added gene: SASS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 38501757; 24951542; 30639237; 36739862 Phenotypes for gene: SASS6 were set to SASS6-related severe microcephaly with brain abnormalities Mode of pathogenicity for gene: SASS6 was set to Other