B9D1 Chromosome 17
B9 domain containing 1
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What This Gene Does
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"B9 domain containing|MKS complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000108641
Associated Conditions (12)
Ciliopathy
Meckel syndrome
type 9
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 27
B9D1-related disorder
Joubert syndrome and related disorders
Uterine corpus endometrial carcinoma
Jeune thoracic dystrophy
Glioma susceptibility 1
Inborn genetic diseases
Key Variants
RS145712777
Conflicting classifications of pathogenicity
Ciliopathy, Ciliopathy
Health Risk
RS147684440
Conflicting classifications of pathogenicity
Meckel syndrome, type 9, Joubert syndrome
Health Risk
RS149758860
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome
Health Risk
RS201299216
Conflicting classifications of pathogenicity
Meckel syndrome, type 9, Meckel-Gruber syndrome
Health Risk
RS373478202
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS546359789
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 27
Health Risk
RS73980009
Conflicting classifications of pathogenicity
Joubert syndrome 27, B9D1-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS749611797
Conflicting classifications of pathogenicity
Meckel syndrome, type 9, Joubert syndrome
Health Risk
RS753785719
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome
Health Risk
RS771170000
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 27, Meckel syndrome
Health Risk
RS886038205
Conflicting classifications of pathogenicity
Joubert syndrome 27, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1057522520
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145712777 | Health Risk | Conflicting classifications of pathogenicity | Ciliopathy, Ciliopathy |
| RS147684440 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 9, Joubert syndrome |
| RS149758860 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS201299216 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 9, Meckel-Gruber syndrome |
| RS373478202 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS546359789 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 27 |
| RS73980009 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 27, B9D1-related disorder, Uterine corpus endometrial carcinoma |
| RS749611797 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 9, Joubert syndrome |
| RS753785719 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS771170000 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 27, Meckel syndrome |
| RS886038205 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 27, Joubert syndrome, Meckel-Gruber syndrome |
| RS1057522520 | Health Risk | Likely pathogenic | — |
| RS1309922077 | Health Risk | Likely pathogenic | Joubert syndrome 27, Meckel syndrome, type 9 |
| RS1908964770 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS778260923 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 27 |
| RS1462645325 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1598057395 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel-Gruber syndrome |
| RS1908307291 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2508552605 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886038206 | Health Risk | Pathogenic | Joubert syndrome 27, Joubert syndrome 27 |
| RS143149764 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 9, Meckel-Gruber syndrome |
| RS369488112 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome 27, Joubert syndrome |