1. Panels
  2. Renal and urinary tract disorders
  3. SALL1
STRs in panel
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Renal and urinary tract disorders

Gene: SALL1

Green List (high evidence)
SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels

4 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 10:21 a.m.
Created: 5 Aug 2016, 10:21 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.260

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green as two reviewers in agreement.
Created: 29 Mar 2016, 10:35 a.m.
Created: 29 Mar 2016, 10:35 a.m.

Panel version: Imported from CAKUT panel version 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • imperforate anus, ear abnormalities, thumb abnormalities
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • Townes-Brocks syndrome, 107480
OMIM
602218
Clinvar variants
Variants in SALL1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480 for gene: SALL1

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SALL1 was added gene: SALL1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480