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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TOWNES-BROCKS SYNDROME 107480
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TOWNES-BROCKS SYNDROME
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#107480:Townes-Brocks syndrome, Townes-Brocks branchiootorenal-like syndrome
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes-Brocks branchiootorenal-like syndrome, 107480
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
imperforate anus, ear abnormalities, thumb abnormalities, Townes-Brocks branchiootorenal-like syndrome, 107480, Townes-Brocks syndrome, 107480