TMEM231 Chromosome 16
Transmembrane protein 231
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What This Gene Does
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000205084
Associated Conditions (12)
Meckel syndrome
type 11
Joubert syndrome 20
Inborn genetic diseases
Joubert syndrome and related disorders
Orofacial-digital syndrome III
TMEM231-related disorder
Malignant tumor of urinary bladder
Ciliopathy
Meckel-Gruber syndrome
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Key Variants
RS1020757759
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
RS1442638461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Joubert syndrome 20, Meckel syndrome
Health Risk
RS1472951348
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
RS1481891893
Conflicting classifications of pathogenicity
TMEM231-related disorder, Joubert syndrome 20, TMEM231-related disorder
Health Risk
RS149888762
Conflicting classifications of pathogenicity
Joubert syndrome 20, Meckel syndrome, type 11
Health Risk
RS199776253
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
RS199813223
Conflicting classifications of pathogenicity
Joubert syndrome 20, Meckel syndrome, type 11
Health Risk
RS200799769
Conflicting classifications of pathogenicity
Joubert syndrome 20, Meckel syndrome, type 11
Health Risk
RS201181950
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
RS201412708
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
RS201636741
Conflicting classifications of pathogenicity
Joubert syndrome 20, Meckel syndrome, type 11
Health Risk
RS202215735
Conflicting classifications of pathogenicity
Meckel syndrome, type 11, Joubert syndrome 20
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS905065417 | Health Risk | Pathogenic | Meckel syndrome, type 11, Joubert syndrome 20 |
| RS1415483600 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 11, Joubert syndrome 20 |
| RS200063331 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 20, Meckel syndrome, type 11 |
| RS2080804101 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 20, Joubert syndrome and related disorders, Meckel syndrome |
| RS2080807114 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 11, Joubert syndrome 20 |
| RS397514609 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 20, Meckel syndrome, type 11 |
| RS397514753 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 11, Meckel-Gruber syndrome |
| RS543122080 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 20, Meckel syndrome, type 11 |
| RS750897443 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 11, Joubert syndrome 20 |
| RS752141701 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 20, Meckel syndrome, type 11 |