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  3. SMPX
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Deafness_Isolated

Gene: SMPX

Green List (high evidence)
SMPX (small muscle protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000091482
EnsemblGeneIds (GRCh37): ENSG00000091482
OMIM: 300226, Gene2Phenotype
SMPX is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>100 affected individuals reported, mouse models. DEFINITIVE by ClinGen. XLD.
Created: 1 Oct 2020, 12:04 a.m. | Last Modified: 1 Oct 2020, 12:04 a.m.
Panel Version: 0.514

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

Phenotypes
Deafness, X-linked 4, MIM# 300066

Publications

Created: 1 Oct 2020, 12:04 a.m.
Last Modified: 1 Oct 2020, 12:04 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.514

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, X-linked 4, MIM# 300066
OMIM
300226
Clinvar variants
Variants in SMPX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMPX were changed from to Deafness, X-linked 4, MIM# 300066

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMPX were set to

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMPX was added gene: SMPX was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females