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Growth failure
Gene: SOX3

SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Most of the evidence for gene-disease association comes from reports of duplications and deletions of Xq26-27 including SOX3 (Xq27.1). Also note some evidence of polyA expansion being linked to the ID phenotype; conflicting evidence regarding the polyA deletion.
Created: 15 Aug 2021, 4:21 a.m. | Last Modified: 15 Aug 2021, 4:21 a.m.

Panel Version: 0.113

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000

Publications

Created: 15 Aug 2021, 4:21 a.m.
Last Modified: 15 Aug 2021, 4:21 a.m.
Panel version: 0.113

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123
Panhypopituitarism, X-linked, MIM#312000

Tags

SV/CNV

OMIM

Clinvar variants

Variants in SOX3

Penetrance

None

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

15 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox3 has been classified as Red List (Low Evidence).

15 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000

15 Aug 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX3 were set to 15800844

15 Aug 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

15 Aug 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SOX3.

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX3 was added gene: SOX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SOX3 were set to 15800844 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Mode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments