Genomics England
GMS Panels
Panels
Genes and Entities

SF3B4

splicing factor 3b subunit 4
OMIM: 605593
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, AFD1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrofacial dysostosis 1, Nager type, 154400, Acrofacial dysostosis 1, Nager type 154400
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrofacial dysostosis 1, Nager type 154400