This Panel is marked as Internal
Non-Fanconi anaemia
Gene: SALL1
SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
1 review
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Radial dysplasia
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SALL1 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SALL1 was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory