MED12

mediator complex subunit 12
OMIM: 300188, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
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 1.9

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 and dissection


Version 1.23
Latest signed off version: v1.2 (19 Feb 2020)

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 1.123

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 3.161
Latest signed off version: v3.2 (13 Feb 2020)

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 1.8

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 syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3 (4 Mar 2020)

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 1.900
Latest signed off version: v1.92 (21 Aug 2020)

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
  • Skewed X-inactivation
  • Q3_21_MOI
  • Q3_21_expert_review

Green MED12 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OPITZ-KAVEGGIA SYNDROME 305450
    • LUJAN-FRYNS SYNDROME 309520

    Amber MED12 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    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 Amber
    Phenotypes
    • Hardikar syndrome, OMIM:612726
    • cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997
    Tags
    • Skewed X-inactivation
    • Q3_21_MOI
    • Q3_21_rating
    • Q3_21_expert_review

    Green MED12 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    • Q3_21_MOI
    • Q3_21_expert_review

    Green MED12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    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 1.127

    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