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Fetal anomalies

Gene: SOX3

Green List (high evidence)
SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Structural pitiutary abnormalities reported.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for SEX REVERSAL TYPE 3 and Confirmed for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOI listed as Hemizgyous for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY, and X-linked dominant for SEX REVERSAL TYPE 3. In the original PAGE file, MOP listed as Cis-regulatory or promotor mutation for SEX REVERSAL TYPE 3, and listed as LOF for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
  • Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
  • 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: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOX3 were changed from SEX REVERSAL TYPE 3; MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY for gene: SOX3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SOX3 was added gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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) Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3