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  3. TSPEAR
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Deafness_IsolatedAndComplex

Gene: TSPEAR

Red List (low evidence)
TSPEAR (thrombospondin type laminin G domain and EAR repeats)
EnsemblGeneIds (GRCh38): ENSG00000175894
EnsemblGeneIds (GRCh37): ENSG00000175894
OMIM: 612920, Gene2Phenotype
TSPEAR is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene-disease association based on very low number of reported families and has been assessed as DISPUTED by ClinGen: homozygous truncating variant reported with deafness in one family has also been reported with ectodermal dysplasia and no deafness in two other families..
Created: 2 Jan 2020, 5:56 a.m. | Last Modified: 2 Jan 2020, 5:56 a.m.
Panel Version: 0.218

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 98, MIM#614861

Publications

Created: 2 Jan 2020, 5:56 a.m.
Last Modified: 2 Jan 2020, 5:56 a.m.
Panel version: 0.218

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 98, MIM#614861
Tags
disputed
OMIM
612920
Clinvar variants
Variants in TSPEAR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: TSPEAR.

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspear has been classified as Red List (Low Evidence).

2 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPEAR were changed from Deafness, autosomal recessive 98, MIM#614861 to Deafness, autosomal recessive 98, MIM#614861

2 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPEAR were changed from to Deafness, autosomal recessive 98, MIM#614861

2 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSPEAR were set to

2 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspear has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSPEAR was added gene: TSPEAR was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: TSPEAR was set to Unknown