Genomics England
GMS Panels
Panels
Genes and Entities

UPF3B

UPF3B, regulator of nonsense mediated mRNA decay
OMIM: 300298
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental Retardation, X-linked, Mental retardation, X-linked, syndromic 14, 300676, MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 (MRXS14)