Monogenic hearing loss
Gene: SMPXNew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:43 p.m.
Inheritance: X-linkedCreated: 10 Apr 2018, 3:55 p.m.
Mode of inheritance
Other
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Inheritance:X-linked dominantCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominantCreated: 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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:23 p.m.
Publications for SMPX were set to PMID: 10598820; 11381084; 11401441; 21549336; 21549342; 22911656; 7581376; 8872482
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)
This gene has been classified as Green List (High Evidence).
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
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
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
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