Hypogonadotropic hypogonadism idiopathic

Gene: SOX3

Red List (low evidence)

SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 12 panels

1 review

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Rare SOX3 duplications are associated with X-linked Panhypopituitarism, which includes pituitary dwarfism, and may also include mental retardation. More syndromic presentation.
Created: 22 Mar 2019, 5:03 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Panhypopituitarism, X-linked, OMIM:312000
  • Panhypopituitarism, X-linked, MONDO:0010712
OMIM
313430
Clinvar variants
Variants in SOX3
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712

22 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SOX3 was added gene: SOX3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked