Liste des panels de gènes

Panels de gènes pour analyse bioinformatique, suite au séquençage de l'exome complet (WES-TEA). Pour plus de détails, prière de contacter le laboratoire.

Version courante

Anevr_v2.01.AB_ML.txt_32

Arythmia_v1.00_47genes

Ataxie_Dystonie_Choree_v2.00_214genes_ER

Ataxie_episodique_v1.00_2genes.AB

Autoinflammatoire_immuno_v1.01_93genes_ER

Cardiomyopathies_v1.0_66genes

Cholestase_v1.00_96genes

Complement_v3.02_12genes.txt

Craniosynostoses_v1.0_20genes_AB

Dementia_v.1.00_AG

Diabetes_Monogeniques_v2 0_14genes

Diplegiespastique_v1.01_169genes_ER

Dysplasie_osseuse_v1.01_264genes_ER

Dysplasie_Spondylo_Epiphysaire_v1.00_13genes

Dystrophies musculaires_v.1.00_47genes_AB

Epilepsy_Extended_v1.03_398genes

Fièvres_v2.01_10genes

Hyperinsulinisme_Congenital_v1.00_10genes

Kallmann_v1.01_25genesER

Marfan_v1.0_8genes

Microcephalie_v2.00_75genes_AB

myasthenie_syndromique.v1.0-AB

Myopathies_a_nemaline_AB_v1.00

Myopathies_distales_myofibrillaires_AB_v1.00

Myopathies_dystrophies_musculaires_congenitales_v.1.00_73genes_KV

MyositeCorpsInclusion_v1.00_10genes

Neuro_sauf_adultes_v4.0_1548genes_KV_ER

Noonan_pure_v1.10_14genes_AB

PCD_DyskinésieCiliairePrimitive_v2.01_38genes

Rasopathie_v1.02.16genes

RenduOsler_EM_v1.0

RenomeGeneve_v1.05_288genes

Retinitis_Pigmentosa_V2.00_sf_182

Surdite_v1.00_147genes

TRDEV_v9_1066genes

 

Anciennes versions

Anevr_v1.01_20genes

Anevr_v1.02_23genes_ML

Anevr_v1.03_24genes_AB

Anevr_v2.00_30genes_ML+AB

Ataxie_Dystonie_Choree_v1.00_185genes_ER

Autoinflammatoire_immuno_v1.00_92genes_ER

Complement_v1.02_11 genes

Diabetes_monogenique_v1.0_12genes

Epilepsy_Extended_v1.01_396genes

Epilepsy_Extended_v1.02_397genes

Fievres_v1.00_4genes

Fievres_v1.01_9genes

Kallmann_v1.00_21genes

microcephalie_v1.00_68genes_SF

Noonan_pure_v1.00_12genes = Noonan_Rasopathie_v1.00_12genes

Neuro_sauf_adultes_v1.0_1472genes_KV

Neuro_sauf_adultes_v2.0_KV

Neuro_sauf_adultes_v3.0_1534genes_KV_ER

PCD_v1 00_36genes

Rasopathie_v1.00_14genes

Rasopathie_v1.01_15genes

RenomeGeneve_v1.00_209genes

RenomeGeneve_v1.01_210genes

RenomeGeneve_v1.02_229genes

RenomeGeneve_v1.02_228genes

RenomeGeneve_v1.04_277genes

RenomeGeneve_v1.04_278genes

RenomeGeneve_v1.04_279genes

RenomeGeneve_v1.05_285genes

Retinitis_pigmentosa_AD_v1.00_28_ER

Retinitis_pigmentosa_All_v1.00_109_ER

TRDEV_v3.02_535genes

TRDEV_v3.03_536genes

TRDEV_v4.00_990genes

TRDEV_v4.01_999genes

TRDEV_v5.0_1047genes

TRDEV_v5.1_1048genes

TRDEV_v5.2_1049genes

TRDEV_v6.0_1050genes

TRDEV_v7.0_1047genes

TRDEV_v8.0_1061genes