Genomics England
GMS Panels
Panels
Genes and Entities

TRPS1

transcriptional repressor GATA binding 1
OMIM: 604386
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Trichorhinophalangeal syndrome, type I 190350, Trichorhinophalangeal syndrome, type III 190351
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Trichorhinophalangeal syndrome, type III 190351, Trichorhinophalangeal syndrome, type I 190350