Details of Disease

General Information of Disease (ID: DISAHGV4)

Disease Name Joubert syndrome 14
Synonyms JBTS14; Joubert syndrome 14; Joubert syndrome caused by mutation in TMEM237; TMEM237 Joubert syndrome; Joubert syndrome type 14
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
Disease Hierarchy
DISDJVUI: Joubert syndrome with ocular defect
DIS7P5CO: Joubert syndrome
DISU0IPO: Joubert syndrome with oculorenal defect
DISAHGV4: Joubert syndrome 14
Disease Identifiers
MONDO ID
MONDO_0013745
UMLS CUI
C3280766
OMIM ID
614424
MedGen ID
482396

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MKS1 OT83W5PB Limited Biomarker [1]
TMEM231 OTF4UYIE Limited Biomarker [1]
TMEM237 OTQEVL7L Definitive Autosomal recessive [2]
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References

1 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubertsyndrome.Nat Cell Biol. 2016 Jan;18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.