BBS12
MCID: BRD013
MIFTS: 45

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 56 12 52 73 29 6 15 17 71
Bbs12 56 12 52 73
Bardet-Biedl Syndrome 52 71
Bardet-Biedl Syndrome, Type 12 39
Bbs 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
bardet-biedl syndrome 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110134
OMIM 56 615989
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859570
UMLS 71 C0752166 C1859570

Summaries for Bardet-Biedl Syndrome 12

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 110 Definition Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This 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). Etiology The 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 methods Recognition 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 diagnosis The differential diagnosis should include the Alstrom, McKusick-Kaufmann and Meckel-Gruber syndromes (see these terms). Genetic counseling The disorder is transmitted mainly in an autosomal recessive manner but oligogenic inheritance has been reported in some cases. Management and treatment Patients with BBS will need multidisciplinary medical care. Prognosis The 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 1. An important gene associated with Bardet-Biedl Syndrome 12 is BBS12 (Bardet-Biedl Syndrome 12). The drugs alpha-MSH and Hormone Antagonists 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 : 56 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 : 73 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 674)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 32.6 WDPCP LOC116158507 BBS12
2 bardet-biedl syndrome 1 32.5 WDPCP BBS12
3 bardet-biedl syndrome 13 32.2 WDPCP BBS12
4 bardet-biedl syndrome 6 32.0 WDPCP BBS12
5 bardet-biedl syndrome 14 31.9 WDPCP BBS12
6 bardet-biedl syndrome 17 31.8 WDPCP BBS12
7 bardet-biedl syndrome 19 31.7 WDPCP BBS12
8 bardet-biedl syndrome 18 31.7 WDPCP BBS12
9 bardet-biedl syndrome 16 31.7 WDPCP BBS12
10 bardet-biedl syndrome 15 31.7 WDPCP BBS12
11 bardet-biedl syndrome 11 31.6 WDPCP BBS12
12 bardet-biedl syndrome 8 31.5 WDPCP BBS12
13 bardet-biedl syndrome 3 31.1 WDPCP BBS12
14 bardet-biedl syndrome 2 13.1
15 bardet-biedl syndrome 4 13.1
16 bardet-biedl syndrome 5 13.1
17 bardet-biedl syndrome 7 13.1
18 bardet-biedl syndrome 9 13.1
19 bardet-biedl syndrome 20 13.0
20 bardet-biedl syndrome 21 13.0
21 laurence-moon syndrome 12.1
22 vaginal atresia 11.9
23 polydactyly 11.7
24 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
25 retinitis pigmentosa 11.6
26 bardet-biedl syndrome 10 11.4
27 polydactyly, postaxial, type a1 11.4
28 mckusick-kaufman syndrome 11.4
29 nijmegen breakage syndrome 11.3
30 meckel syndrome, type 1 11.2
31 neuroretinitis 11.2
32 retinitis 11.2
33 autosomal recessive disease 11.1
34 inherited retinal disorder 11.1
35 joubert syndrome 1 11.1
36 senior-loken syndrome 1 11.1
37 borjeson-forssman-lehmann syndrome 11.1
38 night blindness, congenital stationary, autosomal dominant 3 11.1
39 leber congenital amaurosis 11.1
40 fundus dystrophy 11.1
41 learning disability 10.9
42 end stage renal failure 10.9
43 yemenite deaf-blind hypopigmentation syndrome 10.9
44 kidney disease 10.8
45 chromosome 2q35 duplication syndrome 10.7
46 body mass index quantitative trait locus 11 10.7
47 alacrima, achalasia, and mental retardation syndrome 10.7
48 diabetes mellitus, insulin-dependent 10.7
49 brachydactyly 10.7
50 nephronophthisis 10.7

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the kidney 31 occasional (7.5%) HP:0000077
2 obesity 31 HP:0001513
3 rod-cone dystrophy 31 HP:0000510
4 cognitive impairment 31 HP:0100543
5 hypogonadism 31 HP:0000135
6 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 12 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.4 MCTP2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.4 PGAP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 PGAP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.4 MCTP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.4 MCTP2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.4 MCTP2 PGAP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 PGAP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 MCTP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.4 PGAP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.4 MCTP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.4 MCTP2

Drugs & Therapeutics for Bardet-Biedl Syndrome 12

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 alpha-MSH Phase 2, Phase 3 581-05-5
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 A Phase 3 Trial of Setmelanotide (RM-493), a 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
3 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
8 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989
9 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
10 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics 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 29 BBS12

Anatomical Context for Bardet-Biedl Syndrome 12

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

40
Kidney, Eye, Heart, Retina, Breast, Testes

Publications for Bardet-Biedl Syndrome 12

Articles related to Bardet-Biedl Syndrome 12:

(show all 41)
# Title Authors PMID Year
1
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 61 6 56
17160889 2007
2
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 56 61
20827784 2010
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 56
25982971 2015
5
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 56
19797195 2010
6
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
7
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 56
10874630 1999
8
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. 61
30312873 2018
9
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. 61
29633607 2018
10
Genome-wide association study identifies loci and candidate genes for internal organ weights in Simmental beef cattle. 61
29676954 2018
11
Comprehensive transcriptomic analysis of heat shock proteins in the molecular subtypes of human breast cancer. 61
29954368 2018
12
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 61
29588463 2018
13
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
14
A novel dominant CRX mutation causes adult-onset macular dystrophy. 61
28945142 2018
15
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). 61
28824921 2017
16
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. 61
26900326 2016
17
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 61
26518167 2015
18
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. 61
26082521 2015
19
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 61
24611592 2014
20
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
21
Polarity gene alterations in pure invasive micropapillary carcinomas of the breast. 61
24887297 2014
22
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. 61
25533820 2014
23
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. 61
22869374 2012
24
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. 61
22958920 2012
25
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
26
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
27
BBS mutational analysis: a strategic approach. 61
21463199 2011
28
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61
21044901 2011
29
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 61
21052717 2011
30
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 61
20876674 2011
31
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
32
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 61
20120035 2010
33
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
34
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 61
20648243 2010
35
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
36
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 61
20080638 2010
37
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. 61
19190184 2009
38
[Bardet-Biedl syndrome]. 61
19019343 2008
39
Novel interaction partners of Bardet-Biedl syndrome proteins. 61
18000879 2008
40
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 61
19093007 2008
41
Bardet-Biedl syndrome: a case report. 61
18319026 2008

Variations for Bardet-Biedl Syndrome 12

ClinVar genetic disease variations for Bardet-Biedl Syndrome 12:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS12 NM_152618.3(BBS12):c.787dup (p.Tyr263fs)duplication Pathogenic 434491 rs1553941312 4:123663834-123663834 4:122742679-122742679
2 BBS12 NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)SNV Pathogenic 1150 rs121918328 4:123663912-123663912 4:122742757-122742757
3 BBS12 NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs)deletion Pathogenic 1149 rs587777802 4:123664530-123664531 4:122743375-122743376
4 BBS12 NM_152618.3(BBS12):c.337_339del (p.Val113del)deletion Pathogenic 1148 rs587777801 4:123663382-123663384 4:122742227-122742229
5 BBS12 NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)SNV Pathogenic 1147 rs121918327 4:123664110-123664110 4:122742955-122742955
6 BBS12 NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)deletion Pathogenic/Likely pathogenic 558010 rs1553941369 4:123664054-123664056 4:122742901-122742902
7 BBS12 NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)deletion Pathogenic/Likely pathogenic 1151 rs587777803 4:123664162-123664163 4:122743007-122743008
8 BBS12 NM_152618.3(BBS12):c.265_266del (p.Leu89fs)deletion Pathogenic/Likely pathogenic 554330 rs1397714772 4:123663309-123663311 4:122742157-122742158
9 BBS12 NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)insertion Pathogenic/Likely pathogenic 557758 rs770872200 4:123663729-123663729 4:122742574-122742575
10 BBS12 NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)SNV Pathogenic/Likely pathogenic 553671 rs1553941580 4:123664996-123664996 4:122743841-122743841
11 BBS12 NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)SNV Pathogenic/Likely pathogenic 531820 rs1269565757 4:123664422-123664422 4:122743267-122743267
12 BBS12 NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)SNV Pathogenic/Likely pathogenic 347505 rs752202089 4:123665070-123665070 4:122743915-122743915
13 BBS12 NM_152618.3(BBS12):c.1082del (p.Gly361fs)deletion Likely pathogenic 371339 rs1057517193 4:123664129-123664129 4:122742974-122742974
14 BBS12 NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)SNV Likely pathogenic 550788 rs769588983 4:123663729-123663729 4:122742574-122742574
15 BBS12 NM_152618.3(BBS12):c.1A>C (p.Met1Leu)SNV Likely pathogenic 551815 rs750366365 4:123663048-123663048 4:122741893-122741893
16 BBS12 NM_152618.3(BBS12):c.2T>C (p.Met1Thr)SNV Likely pathogenic 556158 rs1553941150 4:123663049-123663049 4:122741894-122741894
17 BBS12 NM_152618.3(BBS12):c.416_419del (p.Asp139fs)deletion Likely pathogenic 555305 rs1553941255 4:123663460-123663464 4:122742308-122742311
18 BBS12 NM_152618.3(BBS12):c.424dup (p.Asp142fs)duplication Likely pathogenic 555890 rs1553941258 4:123663469-123663469 4:122742316-122742316
19 BBS12 NM_152618.3(BBS12):c.270del (p.Val92fs)deletion Likely pathogenic 555873 rs1173504533 4:123663314-123663315 4:122742162-122742162
20 BBS12 NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)deletion Likely pathogenic 550298 rs1553941391 4:123664186-123664188 4:122743032-122743033
21 BBS12 NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)deletion Likely pathogenic 553411 rs766741204 4:123664331-123664335 4:122743179-122743182
22 BBS12 NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)duplication Likely pathogenic 555788 rs1553941433 4:123664365-123664365 4:122743212-122743218
23 BBS12 NM_152618.3(BBS12):c.1151del (p.Ser384fs)deletion Likely pathogenic 550386 rs1553941404 4:123664197-123664198 4:122743043-122743043
24 BBS12 NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)SNV Likely pathogenic 555983 rs1553941304 4:123663807-123663807 4:122742652-122742652
25 BBS12 NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)SNV Likely pathogenic 627533 4:123663297-123663297 4:122742142-122742142
26 BBS12 NM_152618.3(BBS12):c.49dup (p.Gln17fs)duplication Likely pathogenic 558579 rs756061536 4:123663095-123663095 4:122741941-122741941
27 BBS12 NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)deletion Likely pathogenic 552893 rs1444062882 4:123664995-123664996 4:122743841-122743841
28 BBS12 NM_152618.3(BBS12):c.1795del (p.Leu599fs)deletion Likely pathogenic 557007 rs1553941540 4:123664840-123664841 4:122743687-122743687
29 BBS12 NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)SNV Likely pathogenic 556380 rs1284876635 4:123664796-123664796 4:122743641-122743641
30 BBS12 NM_152618.3(BBS12):c.568dup (p.Ser190fs)duplication Likely pathogenic 556835 rs1553941279 4:123663612-123663612 4:122742460-122742460
31 BBS12 NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)SNV Likely pathogenic 558497 rs745448288 4:123663687-123663687 4:122742532-122742532
32 BBS12 NM_152618.3(BBS12):c.1372dup (p.Thr458fs)duplication Likely pathogenic 554604 rs1195341481 4:123664418-123664418 4:122743264-122743264
33 BBS12 NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)SNV Conflicting interpretations of pathogenicity 560429 4:123664102-123664102 4:122742947-122742947
34 BBS12 NM_152618.3(BBS12):c.1092del (p.Glu365fs)deletion Conflicting interpretations of pathogenicity 347497 rs770218590 4:123664139-123664139 4:122742984-122742984
35 BBS12 NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)deletion Conflicting interpretations of pathogenicity 434492 rs752762669 4:123664578-123664586 4:122743423-122743431
36 BBS12 NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)SNV Conflicting interpretations of pathogenicity 96504 rs138036823 4:123663163-123663163 4:122742008-122742008
37 BBS12 NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)SNV Conflicting interpretations of pathogenicity 281596 rs759088490 4:123665067-123665067 4:122743912-122743912
38 BBS12 NM_152618.3(BBS12):c.1198G>A (p.Val400Met)SNV Uncertain significance 281597 rs771136797 4:123664245-123664245 4:122743090-122743090
39 BBS12 NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)SNV Uncertain significance 347502 rs886059058 4:123664324-123664324 4:122743169-122743169
40 BBS12 NM_152618.3(BBS12):c.*484A>GSNV Uncertain significance 347510 rs886059060 4:123665664-123665664 4:122744509-122744509
41 BBS12 NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)SNV Uncertain significance 188395 rs752254471 4:123664186-123664186 4:122743031-122743031
42 BBS12 NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)SNV Uncertain significance 216822 rs772894742 4:123664506-123664506 4:122743351-122743351
43 BBS12 NM_152618.3(BBS12):c.1574G>A (p.Arg525His)SNV Uncertain significance 220303 rs776730549 4:123664621-123664621 4:122743466-122743466
44 BBS12 NM_152618.3(BBS12):c.31_33AGA[1] (p.Arg12del)short repeat Uncertain significance 444639 rs752885483 4:123663077-123663079 4:122741922-122741924
45 BBS12 NM_152618.3(BBS12):c.29_31del (p.Lys10del)deletion Uncertain significance 554595 rs1553941158 4:123663074-123663077 4:122741921-122741923
46 BBS12 NM_152618.3(BBS12):c.*854C>ASNV Uncertain significance 347515 rs886059061 4:123666034-123666034 4:122744879-122744879
47 BBS12 NM_152618.3(BBS12):c.1418_1420del (p.Phe473del)deletion Uncertain significance 549902 rs1553941469 4:123664462-123664465 4:122743310-122743312
48 BBS12 NM_152618.3(BBS12):c.1507G>A (p.Val503Met)SNV Uncertain significance 555933 rs374865012 4:123664554-123664554 4:122743399-122743399
49 BBS12 NM_152618.3(BBS12):c.298_300GAA[1] (p.Glu101del)short repeat Uncertain significance 558479 rs1553941223 4:123663344-123663347 4:122742193-122742195
50 BBS12 NM_152618.3(BBS12):c.343_345del (p.Val115del)deletion Uncertain significance 554378 rs1553941232 4:123663388-123663391 4:122742235-122742237

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

73
# 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 rs155394137
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

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

Sources for Bardet-Biedl Syndrome 12

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