Genomics England
GMS Panels
Panels
Genes and Entities

PQBP1

polyglutamine binding protein 1
OMIM: 300463
PanelMode of inheritanceDetails
4 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
RENPENNING S(YNDROME 1 309500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
RENPENNING S(YNDROME 1
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
Renpenning syndrome, 309500, RENPENNING S(YNDROME 1 (RENS1)
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Renpenning syndrome 309500