Structural eye disease
Gene: SALL1EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - Structural eye anomalies anomalies are rarely reported in patients with Townes-Brocks syndrome. Coloboma and microphthalmia have been reported in few families that showed intra-familial variability (i.e. eye anomalies not present in all the affected members of the family). These are reported in Kohlhase et al., 1999 (one case with bilateral coloboma), Botzenhart et al., 2005 (one case with unilateral coloboma), Botzenhart et al., 2007 (one case with unilateral microphthalmia).Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes-Brocks branchiootorenal-like syndrome; 107480
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - Structural eye anomalies anomalies are rarely reported in patients with Townes-Brocks syndrome. Coloboma and microphthalmia have been reported in few families that showed intra-familial variability (i.e. eye anomalies not present in all the affected members of the family). These are reported in Kohlhase et al., 1999 (one case with bilateral coloboma), Botzenhart et al., 2005 (one case with unilateral coloboma), Botzenhart et al., 2007 (one case with unilateral microphthalmia).Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes-Brocks branchiootorenal-like syndrome; 107480
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Townes-Brocks branchiootorenal-like syndrome, 107480
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Structural eye disease
- Radial dysplasia
- Monogenic hearing loss
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Skeletal dysplasia
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Intellectual disability
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SALL1 was added gene: SALL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SALL1 were set to 16088922; 17221874; 9973281 Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480