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  3. SOX6
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Intellectual disability

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
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
Created: 30 Jun 2020, 4:25 p.m.
Last Modified: 30 Jun 2020, 4:25 p.m.
Panel version: 3.1510

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

Created: 3 Jun 2020, 10:40 a.m.

Panel version: 3.79

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SOX6.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SOX6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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