SOX5

SRY-box 5
OMIM: 604975, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SOX5 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lamb-Shaffer syndrome, MIM#616803

Green SOX5 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lamb-Shaffer syndrome, MIM# 616803
Tags
  • SV/CNV

Amber SOX5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lamb-Shaffer syndrome, MIM#616803

Green SOX5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Lamb-Shaffer syndrome, MIM#616803
Tags
  • SV/CNV

Red SOX5 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Lamb-Shaffer syndrome, MIM#616803