MutationDistiller
Project
enter project ID, mode of inheritance and number of genes to show
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GRCh37 / Ensembl 85
GRCh37 / Ensembl 102
mode of inheritance
recessive
dominant
recessive (strict)
dominant (strict)
mitochondrial (only mtDNA)
number of genes to show
Variant Selection
enter types of variants to be included in your analysis
variant selection
ClinVar / nonsense
non-synonymous DM
DMs near splice sites
all DMs
all variants
include benign non-synonymous variants
(excl. known polymorphisms)
variant selection for second variant (compound heterozygosity)
ClinVar / nonsense
non-synonymous DM
DMs near splice sites
all DMs
all variants
include benign non-synonymous variants
(excl. known polymorphisms)
second variant (compound heterozygosity)
Candidate Genes, Regions or Panels
restrict your search to custom candidate genes
Common Gene Panels
Genomics England PanelApp
Candidate genes
Gene regions
ACMG actionable genes v3 | ACMG
HPO | Human Phenotype Ontology
MitoCarta3 | MitoCarta
Kingsmore | Orphanet
Cardiovascular disorders
Arteriopathies
Familial cerebral small vessel disease
v1.16
Familial hypercholesterolaemia
v1.30
Severe hypertriglyceridaemia
v1.17
Cardiac arrhythmia
Brugada syndrome and cardiac sodium channel disease
v3.3
Catecholaminergic polymorphic VT
v4.1
Idiopathic ventricular fibrillation
v1.2
Long QT syndrome
v3.3
Sudden death in young people
v1.15
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
v3.6
Dilated Cardiomyopathy and conduction defects
v1.82
Hypertrophic cardiomyopathy
v4.4
Left Ventricular Noncompaction Cardiomyopathy
v1.4
Congenital heart disease
Familial non syndromic congenital heart disease
v1.80
Connective tissue disorders and aortopathies
Thoracic aortic aneurysm or dissection
v1.126
Lymphatic Disorders
Primary lymphoedema
v3.2
Pulmonary heart disease
Pulmonary arterial hypertension
v3.3
Ciliopathies
Congenital malformations caused by ciliopathies
Rare multisystem ciliopathy disorders
v1.168
Respiratory ciliopathies
Non-CF bronchiectasis
v1.29
Primary ciliary disorders
v1.40
Dermatological disorders
Atopy
Severe multi-system atopic disease with high IgE
v1.8
Autoimmune skin disorders
Generalised pustular psoriasis
v1.12
Ectodermal dysplasias
Ectodermal dysplasia without a known gene mutation
v1.23
Ichthyoses
Autosomal recessive congenital ichthyosis
v1.14
Keratodermas
Familial disseminated superficial actinic porokeratosis
v1.2
Palmoplantar keratoderma and erythrokeratodermas
v1.28
Skin adnexa disorders
Familial cicatricial alopecia
v1.5
Familial hidradenitis suppurativa
v1.3
Non-syndromic hypotrichosis
v1.12
Skin fragility disorders
Epidermolysis bullosa
v1.11
Peeling skin syndrome
v1.4
Sun-exposure related conditions
Erythropoietic protoporphyria, mild variant
v1.2
Hydroa vacciniforme
v1.2
Dysmorphic and congenital abnormality syndromes
Autophagy disorders
Vici Syndrome and other autophagy disorders
v1.2
DNA repair disorders
Severe microcephaly
v4.27
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
v3.1
Dysmorphic disorders
Clefting
v4.78
Radial dysplasia
v1.23
Fetal disorders
Fetal hydrops
v1.58
Kabuki
Kabuki syndrome
v1.5
Limb disorders
VACTERL-like phenotypes
v1.34
RASopathies
RASopathies
v1.78
Endocrine disorders
Adrenal disorders
Congenital adrenal hypoplasia
v3.6
Disorders of calcium homeostasis
Familial hypoparathyroidism
v2.10
Disorders of unusual phenotypes
Congenital hyperinsulinism
v3.1
Diabetes with additional phenotypes suggestive of a monogenic aetiology
v1.67
Familial diabetes
v1.67
Insulin resistance (including lipodystrophy)
v1.16
Multi-organ autoimmune diabetes
v1.11
Neonatal diabetes
v4.1
Gonadal and sex development disorders
Disorders of sex development
v4.1
Primary ovarian insufficiency
v1.67
Growth hormone disorders
IUGR and IGF abnormalities
v1.58
Hypothalamic and pituitary disorders
Hypogonadotropic hypogonadism
v1.36
Obesity syndromes
Severe early-onset obesity
v4.3
Thyroid disorders
Congenital hypothyroidism
v2.13
Hyperthyroidism
v3.1
Gastroenterological disorders
Gastrointestinal disorders
Familial Hirschsprung Disease
v1.10
Gastrointestinal epithelial barrier disorders
v1.73
Gastrointestinal neuromuscular disorders
v1.23
Infantile enterocolitis & monogenic inflammatory bowel disease
v1.39
Non-syndromic familial congenital anorectal malformations
v1.8
Liver disease
Neonatal cholestasis
v1.26
Growth disorders
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
v1.119
Growth restriction
Silver Russell syndrome
v1.12
Haematological and immunological disorders
Haemostasis disorders
Inherited bleeding disorders
v1.175
Haematological disorders
Anaemias and red cell disorders
Cytopenias and congenital anaemias
v1.111
Hereditary Erythrocytosis
v2.1
Primary immunodeficiency disorders
A- or hypo-gammaglobulinaemia
v1.25
Agranulocytosis
v1.3
Combined B and T cell defect
v1.12
Congenital neutropaenia
v1.22
SCID
v1.6
Hearing and ear disorders
Deafness and congenital structural abnormalities
Deafness and congenital structural abnormalities
v1.22
Non-syndromic hearing loss
Auditory Neuropathy Spectrum Disorde
v1.9
Monogenic hearing loss
v4.9
Other hearing and ear disorders
Familial Meniere Disease
v1.3
Metabolic disorders
Lysosomal storage disorders
Mucopolysaccharideosis, Gaucher, Fabry
v1.2
Mitochondrial
Mitochondrial disorders
v4.51
Peroxisomal disorders
Peroxisomal disorders
v1.19
Specific metabolic abnormalities
Cerebral folate deficiency
v1.2
Congenital disorders of glycosylation
v4.1
Ketotic hypoglycaemia
v1.8
Undiagnosed metabolic disorders
v1.591
Urea Cycle disorders
Hyperammonaemia
v1.17
Neurology and neurodevelopmental disorders
Cerebrovascular disorders
Cerebral vascular malformations
v3.1
Channelopathies
Brain channelopathy
v1.80
Pain syndromes
v1.12
Skeletal Muscle Channelopathies
v1.45
Inherited Epilepsy Syndromes
Early onset or syndromic epilepsy
v4.64
Epileptic encephalopathy
v1.132
Familial Focal Epilepsies
v1.9
Familial Genetic Generalised Epilepsies
v1.23
Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
v1.9
Motor Disorders of the CNS
Cerebellar hypoplasia
v1.73
Early onset dystonia
v1.135
Hereditary ataxia
v1.326
Hereditary spastic paraplegia
v1.308
Neurotransmitter disorders
v1.9
Structural basal ganglia disorders
v1.38
Motor and Sensory Disorders of the PNS
Hereditary neuropathy
v1.466
Paediatric motor neuronopathies
v3.4
Neurodegenerative disorders
Amyotrophic lateral sclerosis/motor neuron disease
v1.67
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
v1.83
Parkinson Disease and Complex Parkinsonism
v1.116
Neurodevelopmental disorders
Classical tuberous sclerosis
v1.2
Holoprosencephaly - NOT chromosomal
v4.1
Intellectual disability - microarray and sequencing
v5.194
Malformations of cortical development
v4.3
Neuromuscular disorders
Arthrogryposis
v5.13
Congenital muscular dystrophy
v4.9
Congenital myaesthenic syndrome
v4.3
Congenital myopathy
v4.29
Distal myopathies
v3.5
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
v4.20
Rhabdomyolysis and metabolic muscle disorders
v3.5
Parenchymal brain disorders
Intracerebral calcification disorders
v1.35
Sleep disorders
Kleine-Levin syndrome
v1.7
White matter disorders
Inherited white matter disorders
v1.175
Ophthalmological disorders
Anterior segment abnormalities
Bilateral congenital or childhood onset cataracts
v4.1
Corneal abnormalities
v1.12
Glaucoma (developmental)
v1.42
Ocular malformations
Anophthalmia or microphthalmia
v1.51
Ocular coloboma
v1.46
Ocular movement disorders
Infantile nystagmus
v1.6
Posterior segment abnormalities
Optic neuropathy
v4.2
Retinal disorders
v4.12
Renal and urinary tract disorders
Disorders of function
Extreme early-onset hypertension
v1.21
Nephrocalcinosis or nephrolithiasis
v4.1
Renal tubulopathies
v4.1
Unexplained kidney failure in young people
v1.117
Structural renal and urinary tract disease
CAKUT
v1.173
Cystic kidney disease
v4.6
Syndromes with prominent renal abnormalities
Atypical haemolytic uraemic syndrome
v3.1
Haematuria
v2.11
Membranoproliferative glomerulonephritis including C3 glomerulopathy
v3.1
Proteinuric renal disease
v4.1
Respiratory disorders
Interstitial lung disorders
Familial pulmonary fibrosis
v1.30
Structural lung disorders
Pneumothorax - familial
v3.1
Vascular lung disorders
Hereditary haemorrhagic telangiectasia
v3.1
Rheumatological disorders
Connective tissues disorders
Ehlers Danlos syndrome with a likely monogenic cause
v3.3
Multi-system inflammatory/autoimmune disorders
Periodic fever syndromes
v1.33
Skeletal disorders
Choanal anomalies
Choanal atresia
v1.16
Craniosynostosis syndromes
Rare syndromic craniosynostosis or isolated multisuture synostosis
v4.98
Skeletal dysplasias
Amelogenesis imperfecta
v3.1
Chondrodysplasia punctata
v1.5
Multiple Epiphyseal Dysplasia
v1.6
Osteogenesis imperfecta
v4.1
Skeletal dysplasia
v4.10
Stickler syndrome
v4.1
Thoracic dystrophies
v1.18
Tumour syndromes
Breast and endocrine
Familial breast cancer
v1.20
Inherited non-medullary thyroid cancer
v1.5
Inherited ovarian cancer (without breast cancer)
v4.1
Inherited phaeochromocytoma and paraganglioma
v1.11
Multiple endocrine tumours
v1.14
Parathyroid Cancer
v1.4
Childhood Tumours
Childhood solid tumours
v4.2
GI tract
GI tract tumours
v1.22
Muscle and nerve
Familial Tumours Syndromes of the central & peripheral Nervous system
v1.14
Familial rhabdomyosarcoma
v1.5
Neurofibromatosis Type 1
v1.32
Skin
Genodermatoses with malignancies
v1.9
Tumour syndromes
Adult solid tumours for rare disease
v1.36
Haematological malignancies for rare disease
v1.16
not grouped
Currarino triad
v1.1
Ductal plate malformation
v1.22
Familial dysautonomia
v1.17
Familial hyperparathyroidism or hypocalciuric hypercalcaemia
v3.3
Familial prostate cancer
v1.3
Hydrocephalus
v4.1
Limb disorders
v4.5
Monogenic nephrogenic diabetes insipidus
v1.8
Multiple lipomas
v1.1
Ocular and oculo-cutaneous albinism
v1.23
Pancreatitis
v3.1
Pityriasis rubra pilaris
v1.2
Primary immunodeficiency or monogenic inflammatory bowel disease
v4.22
Segmental overgrowth disorders - Deep sequencing
v3.5
Short QT syndrome
v3.2
Phenotype
enter HPO, OMIM, or OrphaNet terms to describe your patient's phenotype
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HPO
OrphaNet
OMIM
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Additional phenotype options
OMIM and GeneRIFs keywords for highlighting and scoring
MGD phenotypes
pigmentation phenotype
tumorigenesis
normal phenotype
no phenotypic analysis
nervous system phenotype
renal/urinary system phenotype
muscle phenotype
liver/biliary system phenotype
limbs/digits/tail phenotype
life span-post-weaning/aging
lethality-postnatal
lethality-embryonic/perinatal
adipose tissue phenotype
homeostasis/metabolism phenotype
hearing/vestibular/ear phenotype
growth/size phenotype
endocrine/exocrine gland phenotype
embryogenesis phenotype
digestive/alimentary phenotype
craniofacial phenotype
cellular phenotype
cardiovascular system phenotype
behaviour/neurological phenotype
immune system phenotype
respiratory system phenotype
reproductive system phenotype
skeleton phenotype
vision/eye phenotype
touch/vibrissae phenotype
skin/coat/nails phenotype
taste/olfaction phenotype
other phenotype
haematopoietic system phenotype
Gene Function
enter GO, WikiPathways or Reactome terms
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GeneOntology
Reactome
WikiPathways
Gene Expression
restrict your search to genes expressed in specific organs or tissues
Developmental stage
adult
fetal
Experimental Method
RNA-Seq
protein expression
RNA-CAGE
Display Settings
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Tissue selection
organs
brain
eye
gallbladder
gastrointestinal tract
heart
kidney
liver
lung
olfactory apparatus
reproductive organs
systems
circulatory/respiratory system
endocrine system
food intake/digestion
immune system
nervous system
reproductive system
urinary system
tissues
bone marrow
mammary tissue
muscle
placenta
skin
throat
Display Options
NCBI synonyms
NCBI geneRIFs
Pathways (Reactome)
Transcripts (ENSEMBL)
Protein families (ENSEMBL)
Protein domains (InterPro)
Protein domains (PFAM)
Paralogs / sequence similarity (ENSEMBL)
Pathways (Kegg)
Pathways (Reactome)
Pathways (WikiPathways)
Human Phenotype Ontology
OMIM reports
OrphaNet
MGD phenotypes
show detailed MGD descriptions
Genbank files
GeneOntology terms
STRING interactions
Maestro score / mitochondria prediction
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