Autism
Gene: SOX5Comment when marking as ready: Note many cases reported of intragenic deletion.Created: 30 Jan 2020, 11:57 p.m. | Last Modified: 30 Jan 2020, 11:57 p.m.
Panel Version: 0.51
Variants are generally de novo, but inheritance from affected and/or mosaic parents have been reportedCreated: 30 Jan 2020, 10:10 p.m. | Last Modified: 30 Jan 2020, 10:10 p.m.
Panel Version: 0.43
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lamb-Shaffer syndrome
Publications
Gene: sox5 has been classified as Green List (High Evidence).
Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Publications for gene: SOX5 were set to 31578471
Publications for gene: SOX5 were set to
Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: SOX5 was added gene: SOX5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX5 was set to Unknown