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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 SOX6 Eleanor Williams Tag Q2_23_promote_green was removed from gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 SOX6 Eleanor Williams edited their review of gene: SOX6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 SOX6 Eleanor Williams Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.51 SOX6 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.51 SOX6 Achchuthan Shanmugasundram Phenotypes for gene: SOX6 were changed from craniosynostosis to Tolchin-Le Caignec syndrome, OMIM:618971; craniosynostosis
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.50 SOX6 Achchuthan Shanmugasundram Publications for gene: SOX6 were set to 32442410; 16258006
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.49 SOX6 Achchuthan Shanmugasundram Mode of inheritance for gene: SOX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.48 SOX6 Achchuthan Shanmugasundram Classified gene: SOX6 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.48 SOX6 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there is sufficient evidence available (seven unrelated cases) for this gene to be promoted to GREEN rating in the next GMS update.

In addition, this gene has also been associated with relevant phenotypes in both OMIM (MIM #618971 ) and Gene2Phenotype (with 'strong' rating in the DD panel).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.48 SOX6 Achchuthan Shanmugasundram Gene: sox6 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.47 SOX6 Achchuthan Shanmugasundram reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16258006, 32442410, 36118902, 36980886; Phenotypes: Tolchin-Le Caignec syndrome, OMIM:618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 SOX6 Rebecca Tooze reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams Tag for-review was removed from gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams commented on gene: SOX6: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. No new evidence. For-review tag should have been removed after Helen Lord review in Jan 2021.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.22 SOX6 Eleanor Williams changed review comment from: 3 unrelated cases reported in Tolchin et al, 2020 with a craniosynotosis phenotype but segregation data only for 2 patients. Additional evidence in Tagariello et al 2004 who reports a patient with brachycephaly and a translocation disrupting SOX6. Borderline green/amber.; to: 3 unrelated cases reported in Tolchin et al, 2020 with a craniosynotosis phenotype but segregation data only for 2 patients.. Additional evidence in Tagariello et al 2004 who reports a patient with brachycephaly and a translocation disrupting SOX6. Borderline green/amber but based on review by Expert Reviewer Helen Lord, will keep amber for now.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.22 SOX6 Eleanor Williams commented on gene: SOX6: 3 unrelated cases reported in Tolchin et al, 2020 with a craniosynotosis phenotype but segregation data only for 2 patients. Additional evidence in Tagariello et al 2004 who reports a patient with brachycephaly and a translocation disrupting SOX6. Borderline green/amber.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.22 SOX6 Eleanor Williams changed review comment from: PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the first this is unknown. 16 other patients from 14 families were also reported with variants in SOX6 but no craniosynostosis phenotype.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.; to: PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the third this is unknown. 16 other patients from 14 families were also reported with variants in SOX6 but no craniosynostosis phenotype.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.19 SOX6 Helen Lord reviewed gene: SOX6: Rating: AMBER; Mode of pathogenicity: None; Publications: 32442410; Phenotypes: Developmental delay, intellectual disability, craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.10 SOX6 Arina Puzriakova Classified gene: SOX6 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.10 SOX6 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.10 SOX6 Arina Puzriakova Gene: sox6 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 SOX6 Arina Puzriakova Tag for-review tag was added to gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 SOX6 Eleanor Williams Phenotypes for gene: SOX6 were changed from craniosynostosis; intellectual disability to craniosynostosis
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.8 SOX6 Eleanor Williams Phenotypes for gene: SOX6 were changed from to craniosynostosis; intellectual disability
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.7 SOX6 Eleanor Williams Publications for gene: SOX6 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.6 SOX6 Eleanor Williams changed review comment from: PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the first this is unknown.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.; to: PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the first this is unknown. 16 other patients from 14 families were also reported with variants in SOX6 but no craniosynostosis phenotype.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.6 SOX6 Eleanor Williams Added comment: Comment on mode of inheritance: All patients reported by Tolchin et al were heterozygous
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.6 SOX6 Eleanor Williams Mode of inheritance for gene: SOX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.5 SOX6 Eleanor Williams Classified gene: SOX6 as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.5 SOX6 Eleanor Williams Added comment: Comment on list classification: 4 patients reported with genomic alterations affecting SOX6 are now reported.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.5 SOX6 Eleanor Williams Gene: sox6 has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.4 SOX6 Eleanor Williams commented on gene: SOX6: PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the first this is unknown.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 SOX6 Tracy Lester reviewed gene: SOX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No disease association on OMIM; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 SOX6 Eleanor Williams reviewed gene: SOX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 SOX6 Eleanor Williams gene: SOX6 was added
gene: SOX6 was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: SOX6 was set to