Familial aplasia of the vermis
- Synonyms
- CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Joubert syndrome; Joubert-Boltshauser syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Melissa Parisi
- Ian Glass
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: JBTS15, TSGA14, CEP41
Summary: centrosomal protein 41Also known as: C5orf42, Hug, JBTS17, OFD6, CPLANE1
Summary: ciliogenesis and planar polarity effector complex subunit 1Also known as: COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134, RPGRIP1L
Summary: RPGRIP1 likeAlso known as: C12orf38, JBTS24, MKS8, TECT2, TCTN2
Summary: tectonic family member 2Also known as: C10orf61, JBTS18, OFD4, TECT3, TCTN3
Summary: tectonic family member 3Also known as: HSPC196, TMEM138
Summary: transmembrane protein 138Also known as: ALYE870, JBTS20, MKS11, PRO1886, TMEM231
Summary: transmembrane protein 231Also known as: ALS2CR4, JBTS14, TMEM237
Summary: transmembrane protein 237Also known as: ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1, TTC21B
Summary: tetratricopeptide repeat domain 21B
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
- EuroGenetest, 2011Clinical utility gene card for: Joubert syndrome.
- OMIM
- View RPGRIP1L variations in ClinVar
- View TCTN3 variations in ClinVar
- View TMEM138 variations in ClinVar
- View TMEM237 variations in ClinVar
- View CPLANE1 variations in ClinVar
- View TMEM231 variations in ClinVar
- View TTC21B variations in ClinVar
- View TCTN2 variations in ClinVar
- View CEP41 variations in ClinVar
- RefSeqGene
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