SOX3

SRY-box 3
OMIM: 313430, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SOX3 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Emory Genetics Laboratory 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
Red SOX3 in Familial hypoparathyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list 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 SOX3 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center Emory Genetics Laboratory 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
Red SOX3 in Hypogonadotropic hypogonadism Level 3: Hypothalamic and pituitary disorders Level 2: Endocrine disorders Version 1.42	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Phenotypes Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712
Red SOX3 in Hypogonadotropic hypogonadism (GMS) Level 2: Endocrinology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	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
Green SOX3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	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
No list SOX3 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green SOX3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources 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
Amber SOX3 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, OMIM:300123 X-linked intellectual disability with isolated growth hormone deficiency, MONDO:0019032
Red SOX3 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature 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
Red SOX3 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red 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