Congenital ophthalmoplegia
Gene: SALL4
SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 11 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
well documented association with Duane-radial ray syndrome.
Sources: LiteratureCreated: 2 Nov 2020, 12:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Duane-radial ray syndrome, 607323
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Duane-radial ray syndrome, 607323
- OMIM
- 607343
- Clinvar variants
- Variants in SALL4
- Penetrance
- None
- Panels with this gene
History Filter Activity
2 Nov 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).
2 Nov 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).
2 Nov 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: SALL4 was added gene: SALL4 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323 Review for gene: SALL4 was set to GREEN