Genomics England
GMS Panels
Panels
Genes and Entities

TCOF1

treacle ribosome biogenesis factor 1
OMIM: 606847
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
TREACHER COLLINS SYNDROME 1, TCS1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TREACHER COLLINS SYNDROME TYPE 1 154500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TREACHER COLLINS SYNDROME TYPE 1
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher Collins syndrome 1 154500