Panel: DD Gene: KMT5B Disease: KMT5B syndrome

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KMT5B

Gene symbol
KMT5B
OMIM MIM
Ensembl stable ID
ENSG00000110066
Synonyms
SUV420H1
Location

KMT5B syndrome

Disease ontology accessions

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Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
monoallelic
Mutation consequence summary
loss of function

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

Phenotypes

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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