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  2. Congenital hypothyroidism
  3. SOX3
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Congenital hypothyroidism

Gene: SOX3

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

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Panhypopituitarism, X-linked, MONDO:0010712
  • Panhypopituitarism, X-linked, OMIM:312000
  • Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
  • Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
OMIM
313430
Clinvar variants
Variants in SOX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX3 was added gene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red 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 15800844; 12428212; 26416826 (2015 review) Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123