Genomics England
GMS Panels
Panels
Genes and Entities

SOX3

SRY-box 3
OMIM: 313430
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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