Panel: DD Gene: KMT5B Disease: KMT5B syndrome

Disease confidence
confirmed
Allelic requirement
monoallelic
Mutation consequence summary
loss of function

Gene: KMT5B

Location
Synonyms
SUV420H1
OMIM MIM
610881
Ensembl stable ID
ENSG00000110066
Variant information
ClinVar Decipher
Protein information
Decipher

Genome-wide significance
Minimum P-value 8.5E-09 from testing the Meta dataset. Source

Disease: KMT5B syndrome

Update disease information

Publications

Phenotypes

Look up phenotypes associated with KMT5B in Decipher

Intellectual disability Overgrowth

Organ specificity

  • Brain/Cognition

Edit organ specificity list:


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 and Dentition