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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. SALL4
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: SALL4

Green List (high evidence)
SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 11 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 16 Mar 2022, 5:44 a.m. | Last Modified: 16 Mar 2022, 5:44 a.m.
Panel Version: 0.11442

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Duane-radial ray syndrome, MIM# 607323; MONDO:0011812; IVIC syndrome, MIM# 147750; MONDO:0007836

Created: 16 Mar 2022, 5:44 a.m.
Last Modified: 16 Mar 2022, 5:44 a.m.
Panel version: Imported from Mendeliome panel version 0.11442

Samantha Ayres (Victorian Clinical Genetics Services)

Phenotypes
Duane-radial ray syndrome, MIM# 607323; MONDO:0011812; IVIC syndrome, MIM# 147750; MONDO:0007836

Publications

Created: 16 Mar 2022, 4:15 a.m.
Last Modified: 16 Mar 2022, 4:15 a.m.
Panel version: Imported from Mendeliome panel version 0.11423

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Phenotypes include: Duane-radial ray syndrome / Okihiro syndrome; Acro-renal-ocular syndrome; and SALL4-related Holt-Oram syndrome.

Acro-renal-ocular syndrome is established clinically in individuals with the following:
-Radial ray malformations
-Renal abnormalities that can include mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, and bladder diverticula
-Ocular abnormalities that can include ocular coloboma and Duane anomaly
Created: 16 Jan 2020, 4:38 a.m. | Last Modified: 16 Jan 2020, 4:38 a.m.
Panel Version: 0.48

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SALL4- related disorders

Publications

Created: 16 Jan 2020, 4:38 a.m.
Last Modified: 16 Jan 2020, 4:38 a.m.
Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • SALL4- related disorders
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sall4 has been classified as Green List (High Evidence).

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SALL4 were changed from to SALL4- related disorders

16 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SALL4 were set to

16 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SALL4 was added gene: SALL4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SALL4 was set to Unknown