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 Amber
Created: 21 May 2020, 8:23 a.m. | Last Modified: 21 May 2020, 8:23 a.m.
Panel Version: 1.122
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, 4:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SALL4- related disorders
Gene: sall4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SALL4 were changed from SALL4- related disorders to Duane-radial ray syndrome, 607323
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