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Intellectual disability syndromic and non-syndromic

Gene: SASS6

Green List (high evidence)

SASS6 (SAS-6 centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000156876
EnsemblGeneIds (GRCh37): ENSG00000156876
OMIM: 609321, Gene2Phenotype
SASS6 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported, severe ID is part of the phenotype.
Sources: Expert Review
Created: 21 May 2024, 1:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

21 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sass6 has been classified as Green List (High Evidence).

21 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sass6 has been classified as Green List (High Evidence).

21 May 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SASS6 was added gene: SASS6 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 24951542; 30639237 Phenotypes for gene: SASS6 were set to Microcephaly 14, primary, autosomal recessive, MIM# 616402 Review for gene: SASS6 was set to GREEN