MED12

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Green MED12 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Ohdo syndrome, X-linked, MIM# 300895 Opitz-Kaveggia syndrome, MIM# 305450
Green MED12 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MED12-related disorders
Green MED12 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520
Green MED12 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked, MIM# 300895
Amber MED12 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Opitz-Kaveggia syndrome, MIM#305450
Green MED12 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	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 Other Phenotypes Hardikar syndrome, MIM# 301068 Lujan-Fryns syndrome, MIM# 309520 Ohdo syndrome, X-linked, MIM# 300895
Green MED12 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MED12 in Mendeliome Version 1.1902	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 Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Hardikar syndrome, MIM# 301068
Amber MED12 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Opitz-Kaveggia syndrome, MIM# 305450
Green MED12 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450
Green MED12 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MED12 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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 Genetic Health Queensland Phenotypes MED12-related intellectual disability syndrome MONDO:0100000
Green MED12 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	Other	Sources Expert Review Green Literature Phenotypes Hardikar syndrome, MIM# 301068
Green MED12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lujan-Fryns syndrome, 309520 (3)
Green MED12 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Intellectual disability
Green MED12 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 OKS submucous cleft palate Hardikar syndrome, MIM# 301068
Green MED12 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	Other	Sources Expert Review Green Literature Phenotypes Hardikar syndrome, MIM# 301068
Green MED12 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Opitz-Kaveggia syndrome, MIM# 305450
Green MED12 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lujan-Fryns syndrome, 309520 (3)
Red MED12 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Opitz-Kaveggia syndrome MIM#305450 Lujan-Fryns syndrome MIM#309520 Hardikar syndrome, MIM# 301068 Ohdo syndrome, X-linked MIM#300895
Green MED12 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520
Green MED12 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lujan-Fryns syndrome, 309520 (3)

MED12

22 panels

Green MED12 in Aortopathy_Connective Tissue Disorders

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Phenotypes

Green MED12 in Arthrogryposis

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Phenotypes

Green MED12 in Bleeding and Platelet Disorders

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Phenotypes

Green MED12 in Blepharophimosis

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Phenotypes

Amber MED12 in Cerebral Palsy

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Phenotypes

Green MED12 in Congenital Heart Defect

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Phenotypes

Green MED12 in Macrocephaly_Megalencephaly

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Green MED12 in Mendeliome

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Phenotypes

Amber MED12 in Overgrowth

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Phenotypes

Green MED12 in Genetic Epilepsy

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Phenotypes

Green MED12 in Callosome

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Green MED12 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green MED12 in Syndromic Retinopathy

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Phenotypes

Green MED12 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green MED12 in Additional findings_Paediatric

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Phenotypes

Green MED12 in Clefting disorders

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Phenotypes

Green MED12 in Liver Failure_Paediatric

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Phenotypes

Green MED12 in Fetal anomalies

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Phenotypes

Green MED12 in Prepair 1000+

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Phenotypes

Red MED12 in BabyScreen+ newborn screening

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Phenotypes

Green MED12 in Transplant Co-Morbidity Superpanel

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Phenotypes

Green MED12 in Prepair 500+

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Phenotypes