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Intellectual disability

Gene: SOX6

Amber List (moderate evidence)

SOX6 (SRY-box 6)
EnsemblGeneIds (GRCh38): ENSG00000110693
EnsemblGeneIds (GRCh37): ENSG00000110693
OMIM: 607257, Gene2Phenotype
SOX6 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 30 Jun 2020, 4:26 p.m. | Last Modified: 30 Jun 2020, 4:26 p.m.
Panel Version: 3.122
Comment on list classification: Not associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SOX6-related neurodevelopmental syndrome. At least 17 unrelated cases, with 14 de novo heterozygous variants, a further 2 families where the variant appeared to inherited from the affected father and a single case where the variant was found to be mosaic in the unaffected father.
Created: 30 Jun 2020, 4:25 p.m. | Last Modified: 30 Jun 2020, 4:25 p.m.
Panel Version: 3.122

Zornitza Stark (Australian Genomics)

Green List (high evidence)

19 individuals from 17 families with a neurodevelopmental syndrome reported. 6 LoF, 4 missense, and 6 intragenic deletion variants identified. ID ranged from mild to severe.
Sources: Literature
Created: 3 Jun 2020, 10:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual diability; ADHD; Craniosynostosis; Osteochondromas

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • intellectual diability
  • ADHD
  • Craniosynostosis
  • Osteochondromas
Tags
for-review
OMIM
607257
Clinvar variants
Variants in SOX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SOX6.

30 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sox6 has been classified as Amber List (Moderate Evidence).

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SOX6 was added gene: SOX6 was added to Intellectual disability. 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 intellectual diability; ADHD; Craniosynostosis; Osteochondromas Review for gene: SOX6 was set to GREEN gene: SOX6 was marked as current diagnostic