Panel: DD Gene: HACE1 Disease: HACE1 related disorder

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Gene: HACE1

Gene symbol
HACE1
OMIM MIM
Ensembl stable ID
ENSG00000085382
Synonyms
Location

Look up HACE1 in Decipher

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Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
biallelic
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

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