Microcephaly
Gene: SASS6EnsemblGeneIds (GRCh38): ENSG00000156876
EnsemblGeneIds (GRCh37): ENSG00000156876
OMIM: 609321, Gene2Phenotype
SASS6 is in 4 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 38501757
1x compound het for a fs and +3 splice variant.
Using cDNA RT-ed from mother's RNA, exons 13-15 were amplified and exon 14 was found to be skipped resulting in c.1546_1674del and p.516_558del
PMID: 36739862
1x family, compound het for 2 missense
Functional studies not performedCreated: 3 Apr 2024, 11:41 p.m. | Last Modified: 3 Apr 2024, 11:41 p.m.
Panel Version: 1.255
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 14, primary, autosomal recessive, MIM# 616402
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families only, no functional data.Created: 4 Feb 2020, 12:23 a.m. | Last Modified: 4 Feb 2020, 12:23 a.m.
Panel Version: 0.78
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
- Victorian Clinical Genetics Services
- 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
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: SASS6 were set to 24951542; 30639237; 38501757; 36739862
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: SASS6 were set to 24951542; 30639237
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: sass6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sass6 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, MIM# 616402 to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SASS6 were changed from to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SASS6 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sass6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SASS6 was added gene: SASS6 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SASS6 was set to Unknown