Genomics England
GMS Panels
Panels
Genes and Entities

SALL1

spalt like transcription factor 1
OMIM: 602218
PanelMode of inheritanceDetails
7 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
TOWNES-BROCKS SYNDROME 107480
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TOWNES-BROCKS SYNDROME
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
Radial Ray abnormality, Polydactyly, Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480, Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#107480:Townes-Brocks syndrome, Townes-Brocks branchiootorenal-like syndrome
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
Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes-Brocks branchiootorenal-like syndrome, 107480
Green
in Unexplained young onset end-stage renal disease - additional genes
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
imperforate anus, ear abnormalities, thumb abnormalities, Townes-Brocks syndrome, 107480, Townes-Brocks branchiootorenal-like syndrome, 107480