mediator complex subunit 12
OMIM: 300188, Gene2Phenotype
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MED12 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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MED12 in Familial Hirschsprung Disease
Level 3: Gastrointestinal disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in Thoracic aortic aneurysm or dissection (GMS)
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in Thoracic aortic aneurysm or dissection
Level 3: Connective tissue disorders and aortopathies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in Arthrogryposis
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in Non-syndromic familial congenital anorectal malformations
Level 3: Gastrointestinal disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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MED12 in Ehlers Danlos syndrome with a likely monogenic cause
Level 3: Connective tissues disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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MED12 in DDG2P
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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MED12 in Clefting
Level 3: Dysmorphic disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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MED12 in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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MED12 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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MED12 in Retinal disorders
Level 3: Posterior segment abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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MED12 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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