Gene: ZBTB18 Disease: ZBTB18 syndrome

Allelic requirement

monoallelic_autosomal

Mutation consequence summary

absent gene product


Variant consequence

loss_of_function_variant

Panel Confidence category
DD definitive

Gene: ZBTB18

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

Disease: ZBTB18 syndrome

Update disease information

Comments

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Publications

No publications have been assigned to the G2P entry yet.

Phenotypes

Look up phenotypes associated with ZBTB18 in DECIPHER

Organ specificity

No organs have been assigned to the G2P entry yet.

Edit organ specificity list:


Blood and blood-forming tissues
Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Cardiovascular
Cellular phenotype
Connective tissue
Constitutional Symptom
Digestive System
Ear
Endocrine
Endocrine/Metabolic
Eye
Eye: Connective tissue
Eye: Cornea
Eye: Lens
Eye: Optic nerve
Eye: Physiology
Eye: Retina
Eye: Structure
Eye: Vasculature
Eye: Vitreous
Face
GI tract
Genitalia
Genitourinary system
Hair
Hair/Nails
Head and neck
Heart/Cardiovasculature/Lymphatic
Immunology
Kidney Renal Tract
Limbs
Liver
Lungs
Metabolism/Laboratory abnormality
Multisystem
Musculature
Nails
Neoplasm
Nervous system
Peripheral nerves
Prenatal and Birth
Respiratory
Respiratory System
Respiratory tract
Skeletal System
Skeleton
Skin
Skin, Hair and Nails
Skin, Nails, Hair
Spinal cord/Peripheral nerves
Teeth and Dentition
Voice
breast
growth