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Monogenic hearing loss

Gene: STRC

Green List (high evidence)
STRC (stereocilin)
EnsemblGeneIds (GRCh38): ENSG00000242866
EnsemblGeneIds (GRCh37): ENSG00000242866
OMIM: 606440, Gene2Phenotype
STRC is in 1 panel

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:31 p.m.
Created: 1 Jun 2018, 2:31 p.m.

Panel version: 1.36

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Possible pseudogene interference
Created: 10 Apr 2018, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Apr 2018, 4:27 p.m.

Panel version: 1.36

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#603720:Deafness, autosomal recessive 16[Hearing loss, sensorineural, mild to moderateHigh frequency sloping audiometric profile]

Publications

Created: 7 Feb 2016, 8:54 a.m.

Panel version: 0.105

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 8 p.m.
Created: 31 Jan 2016, 8 p.m.

Panel version: 0.40

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Definitely a deafness gene but also a PSEUDOGENE as well, so difficult to report
Created: 19 Oct 2015, 6:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Oct 2015, 6:12 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Deafness, autosomal recessive 16, 603720
OMIM
606440
Clinvar variants
Variants in STRC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for STRC were set to PMID:11687802; 12434312; 12825070; 17098888; 18849963; 22147502; 26011646

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for STRC was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

STRC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

STRC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STRC was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert