Severe microcephaly

Gene: SASS6

Red List (low 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)

PMID:24951542 (Khan et al., 2014) examined three affected individuals from a consanguineous MCPH family from Pakistan and identified a homozygous c.185T>C missense mutation in the SASS6 gene, resulting in a p.Ile62Thr substitution. The Ile62Thr mutant of SASS6 is substantially less efficient than the wild-type protein in sustaining centriole formation.
13 Dec 2016, 10:55 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Literature
Phenotypes
  • autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 14, primary, autosomal recessive, 616402
OMIM
609321
Clinvar variants
Variants in SASS6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SASS6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SASS6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SASS6 was created by rfoulger