SOX6

SRY-box transcription factor 6
OMIM: 607257, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SOX6 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tolchin-Le Caignec syndrome, MIM# 618971
  • Developmental delay
  • ID
  • ASD
  • ADHD
  • Parkinsonism
  • Syringomyelia

Green SOX6 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ADHD
  • Craniosynostosis
  • Osteochondromas
  • Tolchin-Le Caignec syndrome, MIM#618971

Green SOX6 in Mendeliome


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ADHD
  • Craniosynostosis
  • Osteochondromas
  • Tolchin-Le Caignec syndrome, MIM#618971

Green SOX6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ADHD
  • Craniosynostosis
  • Osteochondromas
  • Tolchin-Le Caignec syndrome, MIM#618971

Green SOX6 in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Tolchin-Le Caignec syndrome, MONDO:0033544
  • Tolchin-Le Caignec syndrome, OMIM:618971