MutationDistillery

MutationDistiller

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Impressum
1 project show hide
mode of inheritance number of genes to show

2 variant selection show hide
variant selection


include benign non-synonymous variants
(excl. known polymorphisms)


variant selection for second variant (compound heterozygosity)
include benign non-synonymous variants
(excl. known polymorphisms)
 
second variant (compound heterozygosity) show hide

3 candidate genes, regions, or panels show hide
candidate genes or regions
Common Gene Panels
Genomics England PanelApp Charité Neuropaediatrics In-House Panels show  hide

Cardiovascular disorders
Arteriopathies
Cardiac arrhythmia
Cardiomyopathy
Congenital heart disease
Connective tissue disorders and aortopathies
Lymphatic Disorders
Pulmonary heart disease
Ciliopathies
Congenital malformations caused by ciliopathies
Respiratory ciliopathies
Dermatological disorders
Atopy
Autoimmune skin disorders
Ectodermal dysplasias
Ichthyoses
Keratodermas
Skin adnexa disorders
Skin fragility disorders
Sun-exposure related conditions
Dysmorphic and congenital abnormality syndromes
DNA repair disorders
Dysmorphic disorders
Fetal disorders
Kabuki
Limb disorders
RASopathies
Endocrine disorders
Adrenal disorders
Disorders of calcium homeostasis
Disorders of unusual phenotypes
Gonadal and sex development disorders
Growth hormone disorders
Hypothalamic and pituitary disorders
Obesity syndromes
Thyroid disorders
Gastroenterological disorders
Gastrointestinal disorders
Growth disorders
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Growth restriction
Haematological and immunological disorders
Haemostasis disorders
Haematological disorders
Anaemias and red cell disorders
Primary immunodeficiency disorders
Hearing and ear disorders
Deafness and congenital structural abnormalities
Non-syndromic hearing loss
Metabolic disorders
Lysosomal storage disorders
Mitochondrial
Peroxisomal disorders
Specific metabolic abnormalities
Urea Cycle disorders
Neurology and neurodevelopmental disorders
Cerebrovascular disorders
Channelopathies
Inherited Epilepsy Syndromes
Motor Disorders of the CNS
Motor and Sensory Disorders of the PNS
Neurodegenerative disorders
Neurodevelopmental disorders
Neuromuscular disorders
Parenchymal brain disorders
Sleep disorders
White matter disorders
Ophthalmological disorders
Anterior segment abnormalities
Ocular malformations
Ocular movement disorders
Posterior segment abnormalities
Renal and urinary tract disorders
Disorders of function
Structural renal and urinary tract disease
Syndromes with prominent renal abnormalities
Respiratory disorders
Interstitial lung disorders
Structural lung disorders
Vascular lung disorders
Rheumatological disorders
Connective tissues disorders
Multi-system inflammatory/autoimmune disorders
Skeletal disorders
Choanal anomalies
Craniosynostosis syndromes
Skeletal dysplasias
Tumour syndromes
Breast and endocrine
Childhood Tumours
GI tract
Multiple Primaries
Muscle and nerve
Skin
not grouped

4 patients' phenotype show  hide
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Highlighting options show hide

highlight these keywords (OMIM/GeneRIFs):
highlight these MGD phenotypes:


5 gene function show  hide
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7 tissue and organ-specific expression show hide

Developmental stage

Experiment

Display

Tissue selection

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8 display options show hide