TSPAN7:Ensemblv115

tetraspanin 7
OMIM: 300096, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TSPAN7 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 58, 300210 (3)
Tags
  • for review

Red TSPAN7 in Prepair 1000+


Level 2: Screening
Version 3.0

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