Genomics England
GMS Panels
Panels
Genes and Entities

SALL4

spalt like transcription factor 4
OMIM: 607343
PanelMode of inheritanceDetails
7 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
DUANE-RADIAL RAY SYNDROME, DRRS
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRO-RENAL-OCULAR SYNDROME 607323, DUANE-RADIAL RAY SYNDROME 607323
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DUANE-RADIAL RAY SYNDROME, ACRO-RENAL-OCULAR SYNDROME
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polydactyly, IVIC syndrome, 147750, Radial Ray abnormality, IVIC syndrome 147750, Duane-radial ray syndrome, 607323, Okihiro (Duane-radial ray) syndrome 607323
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hearing loss, Duane-radial ray syndrome 607323, IVIC syndrome 147750
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
Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Duane-radial ray syndrome, 607323