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  3. SALL1
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Unexplained young onset end-stage renal disease - additional genes

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

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

History Filter Activity

28 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SALL1 were changed from Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities to Townes-Brocks branchiootorenal-like syndrome, OMIM:107480; Townes-Brocks syndrome 1, OMIM:107480

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SALL1 was added gene: SALL1 was added to Unexplained young onset end-stage renal disease - additional genes. 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 imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480