Panel: DD Gene: DNM1 Disease: EPILEPTIC ENCEPHALOPATHY

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Gene: DNM1

Gene symbol
DNM1
OMIM MIM
Ensembl stable ID
ENSG00000106976
Synonyms
DNM
Location

Look up DNM1 in Decipher

Disease: EPILEPTIC ENCEPHALOPATHY

Disease ontology accessions

  • Epileptic encephalopathy HP:0200134

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Gene-Disease Attributes

Disease confidence
probable

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Allelic requirement
monoallelic
Mutation consequence summary
all missense/in frame

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biallelic
digenic
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (Y)
mosaic
uncertain
x-linked dominant
x-linked over-dominance

Phenotypes

Organ specificity

  • Brain/Cognition

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Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

Variants

The following variants are retrieved from Ensembl. We only select variants that have been annotated as pathogenic by ClinVar. For each of the variants we display the most severe consequence. If there are multiple transcripts producing the consequence, we choose the canonical transcript, otherwise we select the transcript randomly.

Location Variant name Variant source Alleles REF/ALT Most severe consequence Transcript ID Amino acid change PolyPhen prediction SIFT prediction
9:130981471 rs587777860 dbSNP G/C missense_variant ENST00000372923 A/P probably damaging deleterious
9:130982295 rs587777861 dbSNP G/C missense_variant ENST00000372923 K/N probably damaging deleterious
9:130984823 rs587777862 dbSNP G/C missense_variant ENST00000372923 G/A probably damaging deleterious