1. Genes and Genomic Entities
  2. SALL1

SALL1

spalt like transcription factor 1
OMIM: 602218, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green SALL1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 1.34

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 1.27

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • 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


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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 1.119

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Townes-Brocks syndrome, 107480
    • Townes-Brocks branchiootorenal-like syndrome, 107480
    Green SALL1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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 1.177

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  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 Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • imperforate anus, ear abnormalities, thumb abnormalities
    • Townes-Brocks branchiootorenal-like syndrome, 107480
    • Townes-Brocks syndrome, 107480
    Green SALL1 in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.9

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Townes-Brocks syndrome 1 107480
    Green SALL1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TOWNES-BROCKS SYNDROME
    Green SALL1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Townes-Brocks branchiootorenal-like syndrome, 107480
    Red SALL1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Townes-Brocks syndrome 1
    • Glomerulopathy
    • MIM 107480
    Green SALL1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Townes-Brocks branchiootorenal-like syndrome, 107480
    • Townes-Brocks syndrome 1, 107480