TSPAN7

tetraspanin 7
OMIM: 300096, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TSPAN7 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266

Amber TSPAN7 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266

Green TSPAN7 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review 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

Red TSPAN7 in Fetal anomalies


Version 1.255

review 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

Red TSPAN7 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
Tags
  • disputed