1. Panels
  2. Craniosynostosis
  3. SOX6
STRs in panel
Prev Next
Regions in panel
Prev Next

Craniosynostosis

Gene: SOX6

Green List (high evidence)
SOX6 (SRY-box 6)
EnsemblGeneIds (GRCh38): ENSG00000110693
EnsemblGeneIds (GRCh37): ENSG00000110693
OMIM: 607257, Gene2Phenotype
SOX6 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tolchin-Le Caignec syndrome, MIM#618971

Created: 7 Aug 2020, 2:27 a.m.
Last Modified: 7 Aug 2020, 2:27 a.m.
Panel version: 0.133

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. Sources: Literature
Sources: Literature
Created: 1 Jun 2020, 5:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ADHD; Craniosynostosis; Osteochondromas

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Jun 2020, 5:17 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ADHD
  • Craniosynostosis
  • Osteochondromas
  • Tolchin-Le Caignec syndrome, MIM#618971
OMIM
607257
Clinvar variants
Variants in SOX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sox6 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: sox6 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: SOX6 was added gene: SOX6 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX6 were set to 32442410 Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas Review for gene: SOX6 was set to GREEN gene: SOX6 was marked as current diagnostic