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Fetal anomalies

Gene: TSPAN7

Red List (low evidence)

TSPAN7 (tetraspanin 7)
EnsemblGeneIds (GRCh38): ENSG00000156298
EnsemblGeneIds (GRCh37): ENSG00000156298
OMIM: 300096, Gene2Phenotype
TSPAN7 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Isolated ID, likely to present post-natally.
Created: 25 Jan 2022, 7:47 a.m. | Last Modified: 25 Jan 2022, 7:47 a.m.
Panel Version: 0.2815

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 58, MIM# 300210

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, X-linked 58, MIM# 300210
OMIM
300096
Clinvar variants
Variants in TSPAN7
Penetrance
None
Panels with this gene

History Filter Activity

25 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspan7 has been classified as Red List (Low Evidence).

25 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPAN7 were changed from MENTAL RETARDATION X-LINKED TYPE 58 to Intellectual developmental disorder, X-linked 58, MIM# 300210

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSPAN7 was added gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58