Monogenic hearing loss
Gene: SARSComment on list classification: Demoted from Amber to Red as only 1 of the cases had hearing loss.Created: 13 Oct 2021, 1:44 p.m. | Last Modified: 13 Oct 2021, 1:44 p.m.
Panel Version: 2.199
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 13 Oct 2021, 1:41 p.m. | Last Modified: 13 Oct 2021, 1:41 p.m.
Panel Version: 3.1356
New gene name is SARS1Created: 13 Oct 2021, 1:39 p.m. | Last Modified: 13 Oct 2021, 1:39 p.m.
Panel Version: 3.1355
Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.
PMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.
PMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells.
Sources: LiteratureCreated: 11 Oct 2021, 9:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability
Publications
Tag watchlist was removed from gene: SARS. Tag new-gene-name tag was added to gene: SARS.
Tag new-gene-name was removed from gene: SARS.
Gene: sars has been classified as Red List (Low Evidence).
gene: SARS was added gene: SARS was added to Hearing loss. Sources: Expert Review Amber,Literature watchlist, new-gene-name tags were added to gene: SARS. Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399 Phenotypes for gene: SARS were set to ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709