BBS12
MCID: BRD013
MIFTS: 49

Bardet-Biedl Syndrome 12 (BBS12)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bardet-Biedl Syndrome 12

MalaCards integrated aliases for Bardet-Biedl Syndrome 12:

Name: Bardet-Biedl Syndrome 12 58 12 54 76 30 6 17 74
Bbs12 58 12 54 76
Bardet-Biedl Syndrome 54 74
Bardet-Biedl Syndrome, Type 12 41
Bbs 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided for patients with bbs12 mutations (last curated october 2014)


HPO:

33
bardet-biedl syndrome 12:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 12

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 110Disease definitionBardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.EpidemiologyIts prevalence in Europe is estimated at between 1/125,000 and 1/175,000.Clinical descriptionThis disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. Clinical expression is variable but most patients manifest the majority of clinical signs during the disease course. Pigmentary retinopathy is the only constant clinical sign after childhood. BBS may also be associated with several other manifestations including diabetes, hypertension, congenital cardiopathy and Hirschsprung disease (see this term).EtiologyThe wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. To date, mutations in 12 different genes (BBS1 to BBS12) have been identified as being responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absence or dysfunction of BBS proteins results in ciliary anomalies in organs such as the kidney or eye. However, the relationship between symptoms and ciliary dysfunction remains obscure for some of the clinical manifestations of BBS.Diagnostic methodsRecognition of the clinical picture is important as the diagnosis can be confirmed by molecular analysis, allowing appropriate genetic counseling for family members and possible prenatal diagnosis.Differential diagnosisThe differential diagnosis should include the Alström, McKusick-Kaufmann and Meckel-Gruber syndromes (see these terms).Genetic counselingThe disorder is transmitted mainly in an autosomal recessive manner but oligogenic inheritance has been reported in some cases.Management and treatmentPatients with BBS will need multidisciplinary medical care.PrognosisThe renal abnormalities are the main life-threatening manifestations because they can lead to end-stage renal failure and require renal transplantation. Progressive vision loss due to retinal dystrophy, together with moderate intellectual deficit (when present), behavioral anomalies, hypomimia and obesity will affect the social life of these patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bardet-Biedl Syndrome 12, also known as bbs12, is related to bardet-biedl syndrome and bardet-biedl syndrome 13. An important gene associated with Bardet-Biedl Syndrome 12 is BBS12 (Bardet-Biedl Syndrome 12). The drugs Hormones and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and heart, and related phenotypes are abnormality of the kidney and obesity

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.

OMIM : 58 BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615989)

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 12: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Related Diseases for Bardet-Biedl Syndrome 12

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 285)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 32.2 BBS12 WDPCP
2 bardet-biedl syndrome 13 31.0 BBS12 WDPCP
3 bardet-biedl syndrome 1 13.0
4 bardet-biedl syndrome 4 13.0
5 bardet-biedl syndrome 3 13.0
6 bardet-biedl syndrome 5 12.9
7 bardet-biedl syndrome 9 12.9
8 bardet-biedl syndrome 19 12.9
9 bardet-biedl syndrome 6 12.8
10 bardet-biedl syndrome 8 12.8
11 bardet-biedl syndrome 15 12.8
12 bardet-biedl syndrome 16 12.8
13 bardet-biedl syndrome 17 12.8
14 bardet-biedl syndrome 18 12.8
15 bardet-biedl syndrome 20 12.8
16 bardet-biedl syndrome 21 12.8
17 alstrom syndrome 11.8
18 vaginal atresia 11.7
19 bardet-biedl syndrome 11 11.5
20 laurence-moon syndrome 11.5
21 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
22 biemond syndrome 11.4
23 mckusick-kaufman syndrome 11.2
24 retinitis pigmentosa 11.2
25 bardet-biedl syndrome 7 11.2
26 bardet-biedl syndrome 14 11.2
27 nijmegen breakage syndrome 11.1
28 polydactyly, postaxial, type a1 11.0
29 fundus dystrophy 11.0
30 polydactyly 10.8
31 retinitis 10.6
32 situs inversus 10.6
33 diabetes mellitus 10.5
34 kidney disease 10.5
35 retinal degeneration 10.5
36 leber congenital amaurosis 4 10.5
37 bardet-biedl syndrome 2 10.4
38 bardet-biedl syndrome 10 10.4
39 hirschsprung disease 1 10.4
40 chronic kidney failure 10.4
41 tropical calcific pancreatitis 10.3
42 lymphopenia 10.2
43 neuropathy 10.2
44 renal cell carcinoma, nonpapillary 10.2
45 thrombocytopenic purpura, autoimmune 10.2
46 autism 10.2
47 cystinuria 10.2
48 taurodontism 10.2
49 body mass index quantitative trait locus 11 10.2
50 choroideremia 10.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 12:



Diseases related to Bardet-Biedl Syndrome 12

Symptoms & Phenotypes for Bardet-Biedl Syndrome 12

Human phenotypes related to Bardet-Biedl Syndrome 12:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the kidney 33 occasional (7.5%) HP:0000077
2 obesity 33 HP:0001513
3 cognitive impairment 33 HP:0100543
4 hypogonadism 33 HP:0000135
5 rod-cone dystrophy 33 HP:0000510
6 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies (in some patients)

Neurologic Central Nervous System:
cognitive impairment

Skeletal Hands:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

615989

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 12:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.96 BBS12 WDPCP
2 vision/eye MP:0005391 8.62 BBS12 WDPCP

Drugs & Therapeutics for Bardet-Biedl Syndrome 12

Drugs for Bardet-Biedl Syndrome 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 3,Phase 2
2 alpha-MSH Phase 3,Phase 2 581-05-5
3 Hormone Antagonists Phase 3,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
5
Metformin Approved Phase 2 657-24-9 14219 4091
6 Hypoglycemic Agents Phase 2
7 Liver Extracts
8 insulin
9 Insulin, Globin Zinc

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Not yet recruiting NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 12

Genetic Tests for Bardet-Biedl Syndrome 12

Genetic tests related to Bardet-Biedl Syndrome 12:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 12 30 BBS12

Anatomical Context for Bardet-Biedl Syndrome 12

MalaCards organs/tissues related to Bardet-Biedl Syndrome 12:

42
Kidney, Eye, Heart, Pituitary, Liver, Brain, Retina

Publications for Bardet-Biedl Syndrome 12

Articles related to Bardet-Biedl Syndrome 12:

(show top 50) (show all 489)
# Title Authors Year
1
Bardet-Biedl syndrome - antenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. ( 30614526 )
2019
2
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
3
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
4
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
5
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
6
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
7
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
8
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
9
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
10
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
11
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
12
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
13
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
14
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (<i>Bbs1</i><sup>M<i>390</i>R/M<i>390</i>R</sup>): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
15
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a<i>Bardet-Biedl Syndrome 9</i>(<i>BBS9</i>) deletion. ( 29367880 )
2018
16
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
17
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
18
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
19
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
20
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041 )
2018
21
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
22
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
23
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
24
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
25
Characterisation of Bardet Biedl Syndrome by post-mortem microfocus computed tomography (micro-CT). ( 30079607 )
2018
26
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
27
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome. ( 30234512 )
2018
28
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2018
29
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873 )
2018
30
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
31
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2018
32
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2018
33
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
34
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
35
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
36
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ( 28143435 )
2017
37
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
38
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
39
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
40
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
41
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
42
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
43
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
44
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830 )
2017
45
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ( 29457131 )
2017
46
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
47
Toward personalized medicine in Bardet-Biedl syndrome. ( 29754569 )
2017
48
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709 )
2017
49
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2017
50
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579 )
2017

Variations for Bardet-Biedl Syndrome 12

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 12:

76
# Symbol AA change Variation ID SNP ID
1 BBS12 p.Ala289Pro VAR_034926 rs121918328
2 BBS12 p.Gly540Val VAR_034932 rs101040307
3 BBS12 p.Ile346Thr VAR_062964
4 BBS12 p.Thr501Met VAR_062965 rs138011813
5 BBS12 p.Leu88Arg VAR_066266 rs746271266
6 BBS12 p.Gln293Glu VAR_066269
7 BBS12 p.Arg355Gln VAR_066270 rs147490036
8 BBS12 p.Val400Met VAR_066271 rs771136797
9 BBS12 p.Gly539Asp VAR_066276
10 BBS12 p.Arg674Cys VAR_066277 rs759088490

ClinVar genetic disease variations for Bardet-Biedl Syndrome 12:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS12 NM_152618.2(BBS12): c.1139C> T (p.Thr380Ile) single nucleotide variant Uncertain significance rs752254471 GRCh37 Chromosome 4, 123664186: 123664186
2 BBS12 NM_152618.2(BBS12): c.1139C> T (p.Thr380Ile) single nucleotide variant Uncertain significance rs752254471 GRCh38 Chromosome 4, 122743031: 122743031
3 BBS12 NM_152618.2(BBS12): c.1459A> G (p.Arg487Gly) single nucleotide variant Uncertain significance rs772894742 GRCh38 Chromosome 4, 122743351: 122743351
4 BBS12 NM_152618.2(BBS12): c.1459A> G (p.Arg487Gly) single nucleotide variant Uncertain significance rs772894742 GRCh37 Chromosome 4, 123664506: 123664506
5 BBS12 NM_152618.2(BBS12): c.1574G> A (p.Arg525His) single nucleotide variant Uncertain significance rs776730549 GRCh38 Chromosome 4, 122743466: 122743466
6 BBS12 NM_152618.2(BBS12): c.1574G> A (p.Arg525His) single nucleotide variant Uncertain significance rs776730549 GRCh37 Chromosome 4, 123664621: 123664621
7 BBS12 NM_001178007.1(BBS12): c.1483_1484delGA (p.Glu495Argfs) deletion Pathogenic rs587777802 GRCh38 Chromosome 4, 122743375: 122743376
8 BBS12 NM_001178007.1(BBS12): c.1483_1484delGA (p.Glu495Argfs) deletion Pathogenic rs587777802 GRCh37 Chromosome 4, 123664530: 123664531
9 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh37 Chromosome 4, 123664110: 123664110
10 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh38 Chromosome 4, 122742955: 122742955
11 BBS12 NM_001178007.1(BBS12): c.335_337delTAG (p.Val113del) deletion Pathogenic rs587777801 GRCh37 Chromosome 4, 123663382: 123663384
12 BBS12 NM_001178007.1(BBS12): c.335_337delTAG (p.Val113del) deletion Pathogenic rs587777801 GRCh38 Chromosome 4, 122742227: 122742229
13 BBS12 NM_001178007.1(BBS12): c.865G> C (p.Ala289Pro) single nucleotide variant Pathogenic rs121918328 GRCh37 Chromosome 4, 123663912: 123663912
14 BBS12 NM_001178007.1(BBS12): c.865G> C (p.Ala289Pro) single nucleotide variant Pathogenic rs121918328 GRCh38 Chromosome 4, 122742757: 122742757
15 BBS12 NM_152618.2(BBS12): c.1114_1115del (p.Phe372Terfs) deletion Pathogenic/Likely pathogenic rs587777803 GRCh37 Chromosome 4, 123664162: 123664163
16 BBS12 NM_152618.2(BBS12): c.1114_1115del (p.Phe372Terfs) deletion Pathogenic/Likely pathogenic rs587777803 GRCh38 Chromosome 4, 122743007: 122743008
17 BBS12 NM_152618.2(BBS12): c.116T> C (p.Ile39Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138036823 GRCh37 Chromosome 4, 123663163: 123663163
18 BBS12 NM_152618.2(BBS12): c.116T> C (p.Ile39Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138036823 GRCh38 Chromosome 4, 122742008: 122742008
19 BBS12 NM_152618.2(BBS12): c.2020C> T (p.Arg674Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs759088490 GRCh37 Chromosome 4, 123665067: 123665067
20 BBS12 NM_152618.2(BBS12): c.2020C> T (p.Arg674Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs759088490 GRCh38 Chromosome 4, 122743912: 122743912
21 BBS12 NM_152618.2(BBS12): c.1198G> A (p.Val400Met) single nucleotide variant Uncertain significance rs771136797 GRCh37 Chromosome 4, 123664245: 123664245
22 BBS12 NM_152618.2(BBS12): c.1198G> A (p.Val400Met) single nucleotide variant Uncertain significance rs771136797 GRCh38 Chromosome 4, 122743090: 122743090
23 BBS12 NM_152618.2(BBS12): c.1277G> A (p.Cys426Tyr) single nucleotide variant Uncertain significance rs886059058 GRCh38 Chromosome 4, 122743169: 122743169
24 BBS12 NM_152618.2(BBS12): c.1277G> A (p.Cys426Tyr) single nucleotide variant Uncertain significance rs886059058 GRCh37 Chromosome 4, 123664324: 123664324
25 BBS12 NM_152618.2(BBS12): c.*484A> G single nucleotide variant Uncertain significance rs886059060 GRCh38 Chromosome 4, 122744509: 122744509
26 BBS12 NM_152618.2(BBS12): c.*484A> G single nucleotide variant Uncertain significance rs886059060 GRCh37 Chromosome 4, 123665664: 123665664
27 BBS12 NM_152618.2(BBS12): c.1092delA (p.Glu365Argfs) deletion Conflicting interpretations of pathogenicity rs770218590 GRCh38 Chromosome 4, 122742984: 122742984
28 BBS12 NM_152618.2(BBS12): c.1092delA (p.Glu365Argfs) deletion Conflicting interpretations of pathogenicity rs770218590 GRCh37 Chromosome 4, 123664139: 123664139
29 BBS12 NM_152618.2(BBS12): c.2023C> T (p.Arg675Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752202089 GRCh38 Chromosome 4, 122743915: 122743915
30 BBS12 NM_152618.2(BBS12): c.2023C> T (p.Arg675Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752202089 GRCh37 Chromosome 4, 123665070: 123665070
31 BBS12 NM_152618.2(BBS12): c.*854C> A single nucleotide variant Uncertain significance rs886059061 GRCh38 Chromosome 4, 122744879: 122744879
32 BBS12 NM_152618.2(BBS12): c.*854C> A single nucleotide variant Uncertain significance rs886059061 GRCh37 Chromosome 4, 123666034: 123666034
33 BBS12 NM_152618.2(BBS12): c.1082delG (p.Gly361Valfs) deletion Likely pathogenic rs1057517193 GRCh38 Chromosome 4, 122742974: 122742974
34 BBS12 NM_152618.2(BBS12): c.1082delG (p.Gly361Valfs) deletion Likely pathogenic rs1057517193 GRCh37 Chromosome 4, 123664129: 123664129
35 BBS12 NM_152618.2(BBS12): c.787dup (p.Tyr263Leufs) duplication Pathogenic rs1553941312 GRCh38 Chromosome 4, 122742679: 122742679
36 BBS12 NM_152618.2(BBS12): c.787dup (p.Tyr263Leufs) duplication Pathogenic rs1553941312 GRCh37 Chromosome 4, 123663834: 123663834
37 BBS12 NM_152618.2(BBS12): c.1531_1539del (p.Gln511_Gln513del) deletion Pathogenic/Likely pathogenic rs752762669 GRCh37 Chromosome 4, 123664578: 123664586
38 BBS12 NM_152618.2(BBS12): c.1531_1539del (p.Gln511_Gln513del) deletion Pathogenic/Likely pathogenic rs752762669 GRCh38 Chromosome 4, 122743423: 122743431
39 BBS12 NM_001178007.1(BBS12): c.30_32delAAG (p.Arg12del) deletion Uncertain significance rs752885483 GRCh37 Chromosome 4, 123663077: 123663079
40 BBS12 NM_001178007.1(BBS12): c.30_32delAAG (p.Arg12del) deletion Uncertain significance rs752885483 GRCh38 Chromosome 4, 122741922: 122741924
41 BBS12 NM_152618.2(BBS12): c.1375C> T (p.Gln459Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1269565757 GRCh37 Chromosome 4, 123664422: 123664422
42 BBS12 NM_152618.2(BBS12): c.1375C> T (p.Gln459Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1269565757 GRCh38 Chromosome 4, 122743267: 122743267
43 BBS12 NM_152618.2(BBS12): c.29_31delAAA (p.Lys10del) deletion Uncertain significance rs1553941158 GRCh37 Chromosome 4, 123663074: 123663077
44 BBS12 NM_152618.2(BBS12): c.29_31delAAA (p.Lys10del) deletion Uncertain significance rs1553941158 GRCh38 Chromosome 4, 122741921: 122741923
45 BBS12 NM_152618.2(BBS12): c.265_266delTT (p.Leu89Valfs) deletion Likely pathogenic rs1397714772 GRCh37 Chromosome 4, 123663309: 123663311
46 BBS12 NM_152618.2(BBS12): c.265_266delTT (p.Leu89Valfs) deletion Likely pathogenic rs1397714772 GRCh38 Chromosome 4, 122742157: 122742158
47 BBS12 NM_152618.2(BBS12): c.652_653insCAA (p.Lys217_Asn218insThr) insertion Uncertain significance rs879118135 GRCh37 Chromosome 4, 123663697: 123663697
48 BBS12 NM_152618.2(BBS12): c.652_653insCAA (p.Lys217_Asn218insThr) insertion Uncertain significance rs879118135 GRCh38 Chromosome 4, 122742544: 122742545
49 BBS12 NM_152618.2(BBS12): c.682C> T (p.Gln228Ter) single nucleotide variant Likely pathogenic rs769588983 GRCh37 Chromosome 4, 123663729: 123663729
50 BBS12 NM_152618.2(BBS12): c.682C> T (p.Gln228Ter) single nucleotide variant Likely pathogenic rs769588983 GRCh38 Chromosome 4, 122742574: 122742574

Expression for Bardet-Biedl Syndrome 12

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 12.

Pathways for Bardet-Biedl Syndrome 12

GO Terms for Bardet-Biedl Syndrome 12

Cellular components related to Bardet-Biedl Syndrome 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 BBS12 WDPCP
2 cilium GO:0005929 8.62 BBS12 WDPCP

Sources for Bardet-Biedl Syndrome 12

3 CDC
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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