Structural eye disease
Gene: SALL4EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Ullah et al. 2017 one case; Kohlhase et al. 2005 several cases with AROS.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Duane-radial ray syndrome, 607323
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Ullah et al. 2017 one case; Kohlhase et al. 2005 several cases with AROS.Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Duane-radial ray syndrome, 607323
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Duane-radial ray syndrome, 607323
- OMIM
- 607343
- Clinvar variants
- Variants in SALL4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SALL4. Added phenotypes Duane-radial ray syndrome, 607323 for gene: SALL4 Publications for gene SALL4 were changed from 12843316, 6426304 to 12843316; 6426304
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SALL4 was added gene: SALL4 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SALL4 were set to 12843316, 6426304 Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323