Genomics England
GMS Panels
Panels
Genes and Entities

PTBP1

polypyrimidine tract binding protein 1
OMIM: 600693
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder with skeletal dysplasia, Neurodevelopmental disorder, MONDO:0700092, STAD syndrome, OMIM:621495
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, STAD syndrome, OMIM:621495
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, STAD syndrome, OMIM:621495