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  3. SOX3
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BabyScreen+ newborn screening

Gene: SOX3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Duplications and polyA expansion reported as mechanism.
Created: 24 Mar 2023, 12:44 a.m. | Last Modified: 24 Mar 2023, 12:44 a.m.
Panel Version: 0.2072

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

Phenotypes
Panhypopituitarism, X-linked MIM#312000

Created: 24 Mar 2023, 12:44 a.m.
Last Modified: 24 Mar 2023, 12:44 a.m.
Panel version: 0.2072

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Amber in our mendeliome - reviewed for ID
Green in pituitary disorders

Xq27.1 duplication most common mechanism - inclusion might be a question of whether we can detect CNV's in this region

neonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones. Brain hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum

Rx Growth hormone, levothyroxine, hydrocortisone
Sources: Expert list
Created: 23 Mar 2023, 11:21 a.m.

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

Phenotypes
Panhypopituitarism, X-linked MIM#312000

Publications

Created: 23 Mar 2023, 11:21 a.m.

Panel version: 0.2063

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Panhypopituitarism, X-linked MIM#312000
Tags
for review treatable endocrine
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: 0

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: SOX3. Tag treatable tag was added to gene: SOX3. Tag endocrine tag was added to gene: SOX3.

23 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: SOX3 was added gene: SOX3 was added to Baby Screen+ newborn screening. Sources: Expert list 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 PMID: 31678974, PMID: 15800844 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked MIM#312000 Review for gene: SOX3 was set to AMBER