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Hearing loss

Gene: SMPX

Green List (high evidence)

SMPX (small muscle protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000091482
EnsemblGeneIds (GRCh37): ENSG00000091482
OMIM: 300226, Gene2Phenotype
SMPX is in 2 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:43 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Inheritance: X-linked
Created: 10 Apr 2018, 3:55 p.m.

Mode of inheritance
Other

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Jun Shen (Harvard Medical School)

Inheritance:X-linked dominant
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominant
Created: 7 Feb 2016, 8:54 a.m.

Mode of inheritance
Other

Phenotypes
#300066:Deafness, X-linked 4[Hearing loss, sensorineuralHearing loss first affects high frequencies]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:23 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Deafness, X-linked 4, 300066
  • hearing loss
OMIM
300226
Clinvar variants
Variants in SMPX
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 SMPX were set to PMID: 10598820; 11381084; 11401441; 21549336; 21549342; 22911656; 7581376; 8872482

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SMPX was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMPX was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SMPX was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SMPX was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMPX was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen