SOX3

SRY-box 3
OMIM: 313430, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SOX3 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.69	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 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.15 Latest signed off version: v2.14 (1 May 2024)	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 Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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 1.41	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) Version 3.18 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 4.3 Latest signed off version: v4.0 (1 May 2024) 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
Red SOX3 in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	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
Amber SOX3 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Red SOX3 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 2.18 Latest signed off version: v2.2 (25 Feb 2020)	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
Green SOX3 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green 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