MED12

mediator complex subunit 12
OMIM: 300188, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red MED12 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Red MED12 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Hirschsprung disease HSCR
Red MED12 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 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 South West GLH London South GLH South West GLH London South GLH Phenotypes Lujan-Fryns syndrome, OMIM:309520 Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Red MED12 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red South West GLH London South GLH Emory Genetics Laboratory Phenotypes Lujan-Fryns syndrome, OMIM:309520 Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Green MED12 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes MED12-related disorders Opitz-Kaveggia syndrome, OMIM:305450 Ohdo syndrome, X-linked, OMIM:300895 Lujan-Fryns syndrome, OMIM:309520
Green MED12 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	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 Expert list Phenotypes anorectal malformation Opitz-Kaveggia syndrome 305450 FG SYNDROME 1 FG SYNDROME Tags Skewed X-inactivation
No list MED12 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders 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 Removed Emory Genetics Laboratory Phenotypes Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 Opitz-Kaveggia syndrome, 305450 Tags curated_removed
Green MED12 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LUJAN-FRYNS SYNDROME OPITZ-KAVEGGIA SYNDROME Tags to_be_confirmed_NHSE Skewed X-inactivation
Green MED12 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) 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 OPITZ-KAVEGGIA SYNDROME 305450 LUJAN-FRYNS SYNDROME 309520
Green MED12 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.111 Latest signed off version: v4.0 (22 Mar 2023) 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 Expert Review Green NHS GMS Phenotypes Hardikar syndrome, OMIM:612726 cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 Tags Skewed X-inactivation
Green MED12 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, 309520 Opitz-Kaveggia syndrome, 305450 Tags Skewed X-inactivation
Green MED12 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) 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 NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 OPITZ-KAVEGGIA SYNDROME (OKS) Tags Skewed X-inactivation
Green MED12 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (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 Green Literature Phenotypes Hardikar syndrome, OMIM:612726 cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 Tags Skewed X-inactivation
Green MED12 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ohdo syndrome, X-linked, 300895 Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520