Bardet-Biedl syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
24Phenotype mentions
24Publications
30Associated gene records
21Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| IFT27 | HGNC:18626 | 2 | 2 |
| BBIP1 | HGNC:28093 | 2 | 2 |
| WDPCP | HGNC:28027 | 2 | 2 |
| BBS5 | HGNC:970 | 2 | 2 |
| BBS9 | HGNC:30000 | 2 | 2 |
| IFT140 | HGNC:29077 | 1 | 1 |
| TMEM17 | HGNC:26623 | 1 | 1 |
| ERG | HGNC:3446 | 1 | 1 |
| ARL6 | HGNC:13210 | 1 | 1 |
| LZTFL1 | HGNC:6741 | 1 | 1 |
| MKKS | HGNC:7108 | 1 | 1 |
| BBS1 | HGNC:966 | 1 | 1 |
| AKNA | HGNC:24108 | 1 | 1 |
| GOLGA3 | HGNC:4426 | 1 | 1 |
| ITCH | HGNC:13890 | 1 | 1 |
| CEP164 | HGNC:29182 | 1 | 1 |
| NEK4 | HGNC:11399 | 1 | 1 |
| MAPKBP1 | HGNC:29536 | 1 | 1 |
| PDE6D | HGNC:8788 | 1 | 1 |
| CCDC172 | HGNC:30524 | 1 | 1 |
| CEP295 | HGNC:29366 | 1 | 1 |
| LRRC34 | HGNC:28408 | 1 | 1 |
| TTC6 | HGNC:19739 | 1 | 1 |
| TTC23 | HGNC:25730 | 1 | 1 |
| EXOC3L2 | HGNC:30162 | 1 | 1 |
| TXNDC15 | HGNC:20652 | 1 | 1 |
| TRAPPC3 | HGNC:19942 | 1 | 1 |
| LRRCC1 | HGNC:29373 | 1 | 1 |
| CELSR2 | HGNC:3231 | 1 | 1 |
| BBS4 | HGNC:969 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.94C>T | c.94C>T | 1 | 1 |
| p.Gln32Ter | p.Gln32Ter | 1 | 1 |
| c.160A>T | c.160A>T | 1 | 1 |
| p.Lys54Ter | p.Lys54Ter | 1 | 1 |
| c.720C>A | c.720C>A | 1 | 1 |
| p.Cys240Ter | p.Cys240Ter | 1 | 1 |
| c.505A>T | c.505A>T | 1 | 1 |
| p.Lys169Ter | p.Lys169Ter | 1 | 1 |
| c.775delA | c.775delA | 1 | 1 |
| c.1339G>A | c.1339G>A | 1 | 1 |
| p.Ala447Thr | p.Ala447Thr | 1 | 1 |
| c.951+1G>A | c.951+1G>A | 1 | 1 |
| c.119C>G | c.119C>G | 1 | 1 |
| p.Ser40* | p.Ser40* | 1 | 1 |
| c.196delA | c.196delA | 1 | 1 |
| c.529C>T | c.529C>T | 1 | 1 |
| p.Arg177Trp | p.Arg177Trp | 1 | 1 |
| c.253G>C | c.253G>C | 1 | 1 |
| p.E85Q | p.E85Q | 1 | 1 |
| G253C | G253C | 1 | 1 |
| c.966dupT | c.966dupT | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 4 | 4 |
| Population record | — | 4 | 4 |
| Saudi Arabia | — | 3 | 3 |
| Population record | Cohort 10 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Saudi Arabia | Cohort 46 | 1 | 1 |
| Saudi Arabia | Cohort 11 | 1 | 1 |
| Population record | Cohort 81 | 1 | 1 |
| Population record | Cohort 125 | 1 | 1 |
| Population record | Cohort 29 | 1 | 1 |
| Population record | Cohort 371 | 1 | 1 |
Supporting publications
24 records- 2024The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.Genes1 mentions
- 2024Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.Cureus1 mentions
- 2023Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.Cureus1 mentions
- 2023Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Genes1 mentions
- 2023A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2022Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective.Cureus1 mentions
- 2020Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.European journal of human genetics : EJHG1 mentions
- 2020The morbid genome of ciliopathies: an update.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2020An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.Human genetics1 mentions
- 2017Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2016C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Ophthalmic genetics1 mentions
- 2016Characterizing the morbid genome of ciliopathies.Genome biology1 mentions
- 2014IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.Human molecular genetics1 mentions
- 2014Functional modelling of a novel mutation in BBS5.Cilia1 mentions
- 2014Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2012In search of triallelism in Bardet-Biedl syndrome.European journal of human genetics : EJHG1 mentions
- 2011Exome capture sequencing identifies a novel mutation in BBS4.Molecular vision1 mentions
- 2010Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.Journal of medical genetics1 mentions
- 2010Combined occurrence of diabetes mellitus and retinitis pigmentosa.Annals of Saudi medicine1 mentions
- 2009Bardet-biedl syndrome in a child with chronic kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2009Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families.Clinical dysmorphology1 mentions
- 2008Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome.Journal of pediatric surgery1 mentions
- 2008Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.Journal of pediatric urology1 mentions
- 2005Genetic diversity among the Arabs.Community genetics1 mentions