Genomics England

SALL1

spalt like transcription factor 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes TOWNES-BROCKS SYNDROME 107480
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	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 6.2	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
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 #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 7.0	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 4.0	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 Townes-Brocks branchiootorenal-like syndrome, OMIM:107480, Townes-Brocks syndrome 1, OMIM:107480