CAKUT
Gene: SALL4
SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 14 panels
2 reviews
Catherine Snow (Genomics England)
Comment on list classification: This gene has evidence of a gene phenotype relationship from one active group however since 2006 no further gene disease relationship has been reported. SALL4 recently associated with leukemic hematopoiesis. Therefore due to lack of recent association rating gene as AmberCreated: 21 May 2020, 8:23 a.m. | Last Modified: 21 May 2020, 8:23 a.m.
Panel Version: 1.122
chirag patel (Genetic Health Queensland)
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
Sources: LiteratureCreated: 16 Jan 2020, 4:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SALL4- related disorders
Publications
- PMID: 20301547
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Duane-radial ray syndrome, 607323
- OMIM
- 607343
- Clinvar variants
- Variants in SALL4
- Penetrance
- None
- Publications
-
- PMID: 20301547
- Panels with this gene
History Filter Activity
21 May 2020, Gel status: 2
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: sall4 has been classified as Amber List (Moderate Evidence).
21 May 2020, Gel status: 0
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: SALL4 were changed from SALL4- related disorders to Duane-radial ray syndrome, 607323
16 Jan 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
chirag patel (Genetic Health Queensland)gene: SALL4 was added gene: SALL4 was added to CAKUT. Sources: Literature Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SALL4 were set to PMID: 20301547 Phenotypes for gene: SALL4 were set to SALL4- related disorders