Panel: DD Gene: ZBTB18 Disease: ZBTB18 syndrome

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Gene: ZBTB18

Location
Synonyms
ZNF238
OMIM MIM
608433
Ensembl stable ID
ENSG00000179456
Variant information
ClinVar Decipher
Protein information
Decipher

Genome-wide significance
Minimum P-value 4.8E-09 from testing the DDD dataset. Source

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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

Look up phenotypes associated with ZBTB18 in Decipher

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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 and Dentition