SALL1

spalt like transcription factor 1
OMIM: 602218, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SALL1 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Other UKGTN Phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
Green SALL1 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory
Green SALL1 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Bilateral Microtia 107480 Familial hemifacial microsomia with abnormal thumbs or anal anomaly Bilateral Microtia, 107480 Townes-Brocks Syndrome, 107480 Hearing loss panel
Green SALL1 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Radial Ray abnormality Polydactyly Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green SALL1 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing UKGTN Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480
Green SALL1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Emory Genetics Laboratory Phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green SALL1 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480 imperforate anus, ear abnormalities, thumb abnormalities
Green SALL1 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Townes-Brocks syndrome 1 107480
Green SALL1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes TOWNES-BROCKS SYNDROME
Green SALL1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOWNES-BROCKS SYNDROME 107480
Green SALL1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes #107480:Townes-Brocks syndrome Townes-Brocks branchiootorenal-like syndrome
Amber SALL1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480 Townes-Brocks syndrome 1, 107480 TBS
Green SALL1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480
Green SALL1 in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 1.4 Latest signed off version: v1.1 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Townes-Brocks branchiootorenal-like syndrome, OMIM:107480 Townes-Brocks syndrome 1, OMIM:107480