Genomics England
GMS Panels
Panels
Genes and Entities

SETBP1

SET binding protein 1
OMIM: 611060
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
DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schinzel-Giedion midface retraction syndrome 269150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schinzel-Giedion midface retraction syndrome, 269150, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (SGMFS)