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Intellectual disability syndromic and non-syndromic

Gene: SOX9

Amber List (moderate evidence)

SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Agree ID typically not part of the phenotype. Note reports of milder cases and DD/ID reported in some survivors (this publication suggests >80%), therefore downgraded to Amber.
Created: 7 Aug 2024, 9:43 p.m. | Last Modified: 7 Aug 2024, 9:45 p.m.
Panel Version: 0.6102

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
campomelic dysplasia MONDO:0007251

Publications

Ken Lee Wan (Monash Health)

Red List (low evidence)

SOX9 is a well-established gene-disease association with autosomal dominant Campomelic dysplasia (https://search.clinicalgenome.org/CCID:006257).

Intellectual disability and neurodevelopmental delay are not phenotypically associated with autosomal dominant Campomelic dysplasia (MIM: 114290).

Intellect is normal in the relatively small number of survivors described in the literature (PMID: 20301724).

Intellectual disability and/or developmental delay has only been reported in 2 individuals in a 3-generation family with a novel 1Mb involving KCNJ2 and KCNJ16 (not involving SOX9 gene) (PMID: 26663529).

Based on the findings, SOX9 has low evidence for intellectual disability and neurodevelopmental delay.
Created: 2 Aug 2024, 7:10 a.m. | Last Modified: 2 Aug 2024, 7:10 a.m.
Panel Version: 0.6099

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
campomelic dysplasia MONDO:0007251

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
  • Genetic Health Queensland
Phenotypes
  • campomelic dysplasia MONDO:0007251
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox9 has been classified as Amber List (Moderate Evidence).

7 Aug 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX9 were changed from to campomelic dysplasia MONDO:0007251

7 Aug 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX9 were set to

7 Aug 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox9 has been classified as Amber List (Moderate Evidence).

7 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox9 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX9 was added gene: SOX9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX9 was set to Unknown