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  3. SALL1
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CAKUT

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

3 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: 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Panel version: 0

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: 0.25

Details

Mode of Inheritance
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
OMIM
602218
Clinvar variants
Variants in SALL1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SALL1 were set to Townes-Brocks syndrome, 107480; Townes-Brocks branchiootorenal-like syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SALL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Eligibility statement prior genetic testing

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN