UPF3B

UPF3B regulator of nonsense mediated mRNA decay
OMIM: 300298, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green UPF3B in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green UPF3B in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green UPF3B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic 14, 300676 (3)

Green UPF3B in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 14 MIM#300676

Green UPF3B in Prepair 500+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 14 MIM#300676