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Deafness_IsolatedAndComplex
Gene: SMPX

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: 0.514

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
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, X-linked 4, MIM# 300066

OMIM

Clinvar variants

Variants in SMPX

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 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).

1 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 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

1 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMPX were set to

1 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, 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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SMPX was set to Unknown