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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TSPAN7

Green List (high evidence)

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

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Insufficient evidence for inclusion. No additional supporting evidence found
Created: 11 Jul 2022, 5:47 a.m. | Last Modified: 11 Jul 2022, 5:47 a.m.
Panel Version: 0.108

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Non-syndromic ID 4 reported unrelated families with variants in TSPAN7 (previouslyTM4SF2). All reported nearly 20 years ago. The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes. Most variants in ClinVar are either VOUS or LB.
Created: 4 Apr 2022, 4:49 a.m. | Last Modified: 4 Apr 2022, 4:49 a.m.
Panel Version: 0.108

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

Phenotypes
Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 58, 300210 (3)
Tags
for review
OMIM
300096
Clinvar variants
Variants in TSPAN7
Penetrance
None
Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TSPAN7.

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 58, 300210 (3)