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Deafness_IsolatedAndComplex

Gene: SLITRK6

Green List (high evidence)

SLITRK6 (SLIT and NTRK like family member 6)
EnsemblGeneIds (GRCh38): ENSG00000184564
EnsemblGeneIds (GRCh37): ENSG00000184564
OMIM: 609681, Gene2Phenotype
SLITRK6 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional non-Amish family reported.
Created: 29 Jan 2020, 6:17 a.m. | Last Modified: 29 Jan 2020, 6:17 a.m.
Panel Version: 0.306

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness and myopia, MIM#221200

Publications

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

The SLITRK6 gene has been associated with autosomal recessive deafness and myopia using the ClinGen Clinical Validity Framework as of 1/4/2017. This association was made using case-level data only. At least 3 nonsense variants have been reported in humans. SLITRK6 was first associated with this disease in humans as early as 2013 (Tekin et al.). Association is seen in at least 3 probands in 1 publication (23543054). Variants in this gene segregated with disease in 7 additional family members. This gene-disease association is supported by a mouse model and expression studies (Tekin et al. 2013 and Katayama et al. 2009). In summary, there is strong evidence to support the association between SLITRK6 and autosomal recessive deafness and myopia.
Created: 28 Jan 2020, 11:12 p.m. | Last Modified: 28 Jan 2020, 11:12 p.m.
Panel Version: 0.256

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
deafness and myopia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • deafness and myopia, MIM#221200
OMIM
609681
Clinvar variants
Variants in SLITRK6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLITRK6 were set to 23543054; 29551497

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLITRK6 were set to 23543054

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slitrk6 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLITRK6 were changed from to deafness and myopia, MIM#221200

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLITRK6 were set to

29 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLITRK6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLITRK6 was added gene: SLITRK6 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: SLITRK6 was set to Unknown