We have updated our terminology

The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.

Please find out more about the update here.

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Gene: DNM1 Disease: DNM1-associated microcephaly, developmental and epileptic encephalopathy

Allelic requirement: monoallelic_autosomal
Mutation consequence summary: altered gene product structure
Mutation consequences flag: dominant negative

Variant consequence: inframe_deletion; inframe_insertion; missense_variant

Panel	Confidence category
DD	strong

Gene: DNM1

Location

Synonyms: DNM
OMIM MIM: 602377
Ensembl stable ID: ENSG00000106976
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

Look up DNM1 in PanelApp

Disease: DNM1-associated microcephaly, developmental and epileptic encephalopathy

Update disease information

Comments

No comments have been assigned to the G2P entry yet.

Publications

List of publications that have been assigned to the G2P entry:

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. (Am J Hum Genet 109: 2253-2269, 2022)

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. (Am J Hum Genet. 95: 360-370, 2014.)

Loss-of-function variants in <i>DNM1</i> cause a specific form of developmental and epileptic encephalopathy only in biallelic state. (J Med Genet 59: 549-553, 2022)

Phenotypes

No phenotypes have been assigned to the G2P entry yet.

Look up phenotypes associated with DNM1 in DECIPHER

We have updated our terminology

Gene: DNM1 Disease: DNM1-associated microcephaly, developmental and epileptic encephalopathy

Gene: DNM1

Disease: DNM1-associated microcephaly, developmental and epileptic encephalopathy

Update disease information

Comments

Publications

Phenotypes

Organ specificity

Edit organ specificity list: