Structural eye disease
Gene: SALL1
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
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
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