BBS12
MCID: BRD013
MIFTS: 44

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 57 12 20 72 29 6 15 17 70
Bbs12 57 12 20 72
Bardet-Biedl Syndrome 20 70
Bardet-Biedl Syndrome, Type 12 39
Bbs 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 615989
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
MedGen 41 C1859570
UMLS 70 C0752166 C1859570

Summaries for Bardet-Biedl Syndrome 12

GARD : 20 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.

MalaCards based summary : Bardet-Biedl Syndrome 12, also known as bbs12, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 12 is BBS12 (Bardet-Biedl Syndrome 12). The drugs Anesthetics and insulin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and heart, and related phenotypes are abnormality of the kidney and cognitive impairment

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® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 324)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 31.8 WDPCP BBS12
2 bardet-biedl syndrome 31.8 WDPCP LOC116158507 BBS12
3 bardet-biedl syndrome 15 31.3 WDPCP BBS12
4 bardet-biedl syndrome 17 31.3 WDPCP BBS12
5 bardet-biedl syndrome 13 31.3 WDPCP BBS12
6 bardet-biedl syndrome 18 31.3 WDPCP BBS12
7 bardet-biedl syndrome 16 31.3 WDPCP BBS12
8 bardet-biedl syndrome 6 31.3 WDPCP BBS12
9 bardet-biedl syndrome 19 31.2 WDPCP BBS12
10 bardet-biedl syndrome 11 31.1 WDPCP BBS12
11 bardet-biedl syndrome 14 31.0 WDPCP BBS12
12 bardet-biedl syndrome 2 12.0
13 bardet-biedl syndrome 4 12.0
14 bardet-biedl syndrome 5 12.0
15 bardet-biedl syndrome 7 12.0
16 bardet-biedl syndrome 9 12.0
17 bardet-biedl syndrome 20 11.8
18 bardet-biedl syndrome 21 11.8
19 laurence-moon syndrome 11.5
20 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.3
21 vaginal atresia 11.3
22 polydactyly 11.2
23 retinitis pigmentosa 11.2
24 heart disease 11.1
25 neuroretinitis 11.1
26 retinitis 11.1
27 autosomal recessive disease 11.0
28 nijmegen breakage syndrome 11.0
29 mckusick-kaufman syndrome 11.0
30 fundus dystrophy 11.0
31 cone-rod dystrophy 2 11.0
32 meckel syndrome, type 1 11.0
33 bardet-biedl syndrome 10 10.9
34 senior-loken syndrome 1 10.8
35 usher syndrome, type iia 10.8
36 borjeson-forssman-lehmann syndrome 10.8
37 bardet-biedl syndrome 3 10.8
38 night blindness, congenital stationary, autosomal dominant 3 10.8
39 bardet-biedl syndrome 8 10.8
40 usher syndrome 10.8
41 asphyxiating thoracic dystrophy 10.8
42 leber plus disease 10.8
43 nephronophthisis 10.8
44 learning disability 10.8
45 yemenite deaf-blind hypopigmentation syndrome 10.7
46 chromosome 2q35 duplication syndrome 10.6
47 body mass index quantitative trait locus 11 10.6
48 end stage renal disease 10.6
49 kidney disease 10.6
50 alacrima, achalasia, and mental retardation syndrome 10.6

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 cognitive impairment 31 HP:0100543
3 obesity 31 HP:0001513
4 rod-cone dystrophy 31 HP:0000510
5 hypogonadism 31 HP:0000135
6 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cognitive impairment

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies (in some patients)

Growth Weight:
obesity

Skeletal Hands:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

615989 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.32 MCTP2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.32 MCTP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.32 PGAP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.32 MCTP2 PGAP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 PGAP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.32 MCTP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.32 PGAP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.32 PGAP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.32 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 Anesthetics
2 insulin
3 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Active, not recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 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
3 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
4 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
5 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
6 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
7 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
8 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
9 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
Eye, Kidney, Heart, Liver, Retina, Pituitary, Ovary

Publications for Bardet-Biedl Syndrome 12

Articles related to Bardet-Biedl Syndrome 12:

(show all 46)
# Title Authors PMID Year
1
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 61 6 57
20827784 2010
2
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 57 6
17160889 2007
3
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 6 61
24611592 2014
4
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 61 6
20648243 2010
5
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
6
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 6
27659767 2017
7
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 57
25982971 2015
8
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 6
25133751 2014
9
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 6
21642631 2011
10
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 57
19797195 2010
11
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 57
10874630 1999
12
Ciliopathies: Coloring outside of the lines. 61
33369054 2021
13
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome. 61
32448990 2020
14
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. 61
31888296 2019
15
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
16
Genome-wide association study identifies loci and candidate genes for internal organ weights in Simmental beef cattle. 61
29676954 2018
17
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
18
Comprehensive transcriptomic analysis of heat shock proteins in the molecular subtypes of human breast cancer. 61
29954368 2018
19
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 61
29588463 2018
20
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
21
A novel dominant CRX mutation causes adult-onset macular dystrophy. 61
28945142 2018
22
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). 61
28824921 2017
23
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
24
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
25
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. 61
26082521 2015
26
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
27
Polarity gene alterations in pure invasive micropapillary carcinomas of the breast. 61
24887297 2014
28
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. 61
25533820 2014
29
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. 61
22869374 2012
30
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. 61
22958920 2012
31
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
32
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
33
BBS mutational analysis: a strategic approach. 61
21463199 2011
34
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61
21044901 2011
35
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 61
21052717 2011
36
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 61
20876674 2011
37
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
38
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 61
20120035 2010
39
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
40
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
41
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 61
20080638 2010
42
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. 61
19190184 2009
43
[Bardet-Biedl syndrome]. 61
19019343 2008
44
Novel interaction partners of Bardet-Biedl syndrome proteins. 61
18000879 2008
45
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 61
19093007 2008
46
Bardet-Biedl syndrome: a case report. 61
18319026 2008

Variations for Bardet-Biedl Syndrome 12

ClinVar genetic disease variations for Bardet-Biedl Syndrome 12:

6 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BBS12 NM_152618.3(BBS12):c.787dup (p.Tyr263fs) Duplication Pathogenic 434491 rs1553941312 GRCh37: 4:123663832-123663833
GRCh38: 4:122742677-122742678
2 BBS12 NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs) Microsatellite Pathogenic 866623 GRCh37: 4:123664937-123664938
GRCh38: 4:122743782-122743783
3 BBS12 NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) SNV Pathogenic 1147 rs121918327 GRCh37: 4:123664110-123664110
GRCh38: 4:122742955-122742955
4 BBS12 NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) Deletion Pathogenic 1151 rs587777803 GRCh37: 4:123664161-123664162
GRCh38: 4:122743006-122743007
5 BBS12 NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) SNV Pathogenic 1150 rs121918328 GRCh37: 4:123663912-123663912
GRCh38: 4:122742757-122742757
6 BBS12 NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs) Deletion Pathogenic 1149 rs587777802 GRCh37: 4:123664529-123664530
GRCh38: 4:122743374-122743375
7 BBS12 NM_152618.3(BBS12):c.337_339del (p.Val113del) Deletion Pathogenic 1148 rs587777801 GRCh37: 4:123663382-123663384
GRCh38: 4:122742227-122742229
8 BBS12 NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) SNV Pathogenic/Likely pathogenic 347505 rs752202089 GRCh37: 4:123665070-123665070
GRCh38: 4:122743915-122743915
9 BBS12 NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) Deletion Pathogenic/Likely pathogenic 434492 rs752762669 GRCh37: 4:123664577-123664585
GRCh38: 4:122743422-122743430
10 BBS12 NM_152618.3(BBS12):c.1082del (p.Gly361fs) Deletion Pathogenic/Likely pathogenic 371339 rs1057517193 GRCh37: 4:123664127-123664127
GRCh38: 4:122742972-122742972
11 BBS12 NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) SNV Pathogenic/Likely pathogenic 553671 rs1553941580 GRCh37: 4:123664996-123664996
GRCh38: 4:122743841-122743841
12 BBS12 NM_152618.3(BBS12):c.265_266del (p.Leu89fs) Deletion Likely pathogenic 554330 rs1397714772 GRCh37: 4:123663310-123663311
GRCh38: 4:122742155-122742156
13 BBS12 NM_152618.3(BBS12):c.1372dup (p.Thr458fs) Duplication Likely pathogenic 554604 rs1195341481 GRCh37: 4:123664418-123664419
GRCh38: 4:122743263-122743264
14 BBS12 NM_152618.3(BBS12):c.416_419del (p.Asp139fs) Deletion Likely pathogenic 555305 rs1553941255 GRCh37: 4:123663461-123663464
GRCh38: 4:122742306-122742309
15 BBS12 NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) Deletion Likely pathogenic 553411 rs766741204 GRCh37: 4:123664332-123664335
GRCh38: 4:122743177-122743180
16 BBS12 NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) Deletion Likely pathogenic 552893 rs1444062882 GRCh37: 4:123664996-123664996
GRCh38: 4:122743841-122743841
17 BBS12 NM_152618.3(BBS12):c.1A>C (p.Met1Leu) SNV Likely pathogenic 551815 rs750366365 GRCh37: 4:123663048-123663048
GRCh38: 4:122741893-122741893
18 BBS12 NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) Deletion Likely pathogenic 550298 rs1553941391 GRCh37: 4:123664187-123664188
GRCh38: 4:122743032-122743033
19 BBS12 NM_152618.3(BBS12):c.1151del (p.Ser384fs) Deletion Likely pathogenic 550386 rs1553941404 GRCh37: 4:123664198-123664198
GRCh38: 4:122743043-122743043
20 BBS12 NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) SNV Likely pathogenic 550788 rs769588983 GRCh37: 4:123663729-123663729
GRCh38: 4:122742574-122742574
21 BBS12 NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) SNV Likely pathogenic 555983 rs1553941304 GRCh37: 4:123663807-123663807
GRCh38: 4:122742652-122742652
22 BBS12 NM_152618.3(BBS12):c.2T>C (p.Met1Thr) SNV Likely pathogenic 556158 rs1553941150 GRCh37: 4:123663049-123663049
GRCh38: 4:122741894-122741894
23 BBS12 NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) SNV Likely pathogenic 556380 rs1284876635 GRCh37: 4:123664796-123664796
GRCh38: 4:122743641-122743641
24 BBS12 NM_152618.3(BBS12):c.568dup (p.Ser190fs) Duplication Likely pathogenic 556835 rs1553941279 GRCh37: 4:123663612-123663613
GRCh38: 4:122742457-122742458
25 BBS12 NM_152618.3(BBS12):c.1795del (p.Leu599fs) Deletion Likely pathogenic 557007 rs1553941540 GRCh37: 4:123664841-123664841
GRCh38: 4:122743686-122743686
26 BBS12 NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) Insertion Likely pathogenic 557758 rs770872200 GRCh37: 4:123663729-123663730
GRCh38: 4:122742574-122742575
27 BBS12 NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) Duplication Likely pathogenic 555788 rs1553941433 GRCh37: 4:123664365-123664366
GRCh38: 4:122743210-122743211
28 BBS12 NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) Deletion Likely pathogenic 558010 rs1553941369 GRCh37: 4:123664055-123664056
GRCh38: 4:122742900-122742901
29 BBS12 NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) SNV Likely pathogenic 558497 rs745448288 GRCh37: 4:123663687-123663687
GRCh38: 4:122742532-122742532
30 BBS12 NM_152618.3(BBS12):c.49dup (p.Gln17fs) Duplication Likely pathogenic 558579 rs756061536 GRCh37: 4:123663095-123663096
GRCh38: 4:122741940-122741941
31 BBS12 NM_152618.3(BBS12):c.250G>A (p.Gly84Arg) SNV Likely pathogenic 627533 rs1578489760 GRCh37: 4:123663297-123663297
GRCh38: 4:122742142-122742142
32 BBS12 NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) SNV Likely pathogenic 974416 GRCh37: 4:123664663-123664663
GRCh38: 4:122743508-122743508
33 BBS12 NM_152618.3(BBS12):c.424dup (p.Asp142fs) Duplication Likely pathogenic 555890 rs1553941258 GRCh37: 4:123663469-123663470
GRCh38: 4:122742314-122742315
34 BBS12 NM_152618.3(BBS12):c.270del (p.Val92fs) Deletion Likely pathogenic 555873 rs1173504533 GRCh37: 4:123663315-123663315
GRCh38: 4:122742160-122742160
35 BBS12 NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) SNV Likely pathogenic 531820 rs1269565757 GRCh37: 4:123664422-123664422
GRCh38: 4:122743267-122743267
36 BBS12 NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) SNV Conflicting interpretations of pathogenicity 96504 rs138036823 GRCh37: 4:123663163-123663163
GRCh38: 4:122742008-122742008
37 BBS12 NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) SNV Uncertain significance 216822 rs772894742 GRCh37: 4:123664506-123664506
GRCh38: 4:122743351-122743351
38 BBS12 NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) SNV Uncertain significance 188395 rs752254471 GRCh37: 4:123664186-123664186
GRCh38: 4:122743031-122743031
39 BBS12 NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys) SNV Uncertain significance 1030268 GRCh37: 4:123664048-123664048
GRCh38: 4:122742893-122742893
40 BBS12 NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) SNV Uncertain significance 1030269 GRCh37: 4:123664323-123664323
GRCh38: 4:122743168-122743168
41 BBS12 NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) SNV Uncertain significance 851247 GRCh37: 4:123664507-123664507
GRCh38: 4:122743352-122743352
42 BBS12 NM_152618.3(BBS12):c.298_300GAA[1] (p.Glu101del) Microsatellite Uncertain significance 558479 rs1553941223 GRCh37: 4:123663345-123663347
GRCh38: 4:122742190-122742192
43 BBS12 NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) SNV Uncertain significance 560429 rs767068756 GRCh37: 4:123664102-123664102
GRCh38: 4:122742947-122742947
44 BBS12 NM_152618.3(BBS12):c.775A>G (p.Thr259Ala) SNV Uncertain significance 899991 GRCh37: 4:123663822-123663822
GRCh38: 4:122742667-122742667
45 BBS12 NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser) SNV Uncertain significance 901097 GRCh37: 4:123664165-123664165
GRCh38: 4:122743010-122743010
46 BBS12 NM_152618.3(BBS12):c.*425C>T SNV Uncertain significance 901163 GRCh37: 4:123665605-123665605
GRCh38: 4:122744450-122744450
47 BBS12 NM_152618.3(BBS12):c.*582G>T SNV Uncertain significance 901164 GRCh37: 4:123665762-123665762
GRCh38: 4:122744607-122744607
48 BBS12 NM_152618.3(BBS12):c.1227G>A (p.Val409=) SNV Uncertain significance 901703 GRCh37: 4:123664274-123664274
GRCh38: 4:122743119-122743119
49 BBS12 NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) SNV Uncertain significance 901704 GRCh37: 4:123664336-123664336
GRCh38: 4:122743181-122743181
50 BBS12 NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser) SNV Uncertain significance 990255 GRCh37: 4:123664624-123664624
GRCh38: 4:122743469-122743469

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

72
# 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

3 CDC
7 CNVD
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