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  3. SOX3
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Pituitary hormone deficiency

Gene: SOX3

Amber List (moderate evidence)
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)

I don't know

Evidence is largely from duplications of the entire gene rather than SNVs.
Created: 24 Mar 2023, 12:43 a.m. | Last Modified: 24 Mar 2023, 12:43 a.m.
Panel Version: 0.31

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

Phenotypes
Panhypopituitarism, X-linked, MIM# 312000

Created: 24 Mar 2023, 12:43 a.m.
Last Modified: 24 Mar 2023, 12:43 a.m.
Panel version: 0.31

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Panhypopituitarism, X-linked (312000)
  • Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Tags
SV/CNV
OMIM
313430
Clinvar variants
Variants in SOX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox3 has been classified as Amber List (Moderate Evidence).

24 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox3 has been classified as Amber List (Moderate Evidence).

24 Mar 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2020, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: SOX3 was added gene: SOX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)