SOX3

SRY-box 3
OMIM: 313430, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber SOX3 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	Other	Sources Expert Review Amber Expert Review Phenotypes XX male sex reversal Tags SV/CNV
Amber SOX3 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 XX male sex reversal Tags SV/CNV
Red SOX3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Amber SOX3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Amber SOX3 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.34	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Panhypopituitarism, X-linked (312000) Mental retardation, X-linked, with isolated growth hormone deficiency (300123) Tags SV/CNV
Red SOX3 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Panhypopituitarism, X-linked, MONDO:0010712 Panhypopituitarism, X-linked, OMIM:312000 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Red SOX3 in Growth failure Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Amber SOX3 in Fetal anomalies Version 1.255	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 Genomics England PanelApp Genetic Health Queensland Phenotypes Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Tags SV/CNV
Amber SOX3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Panhypopituitarism, X-linked MIM#312000 Tags for review treatable endocrine
Green PHPX STR in Repeat Disorders Version 0.167	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset