GenTIGS

Lists of Rare Genetic Disorders

Bardet-Biedl Syndrome Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	WDPCP/51057	WD repeat containing planar cell polarity effector	2p15	Chr2, NC_000002.12 (63119559..63840826, complement)	721268 nt	31	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	SDCCAG8/10806	SHH signaling and ciliogenesis regulator SDCCAG8	1q43	Chr1, NC_000001.11 (243256041..243500091)	244051 nt	21	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	BBS12/166379	Bardet-Biedl syndrome 12	4q27	Chr4, NC_000004.12 (122700442..122744939)	44498 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	BBS10/79738	Bardet-Biedl syndrome 10	12q21.2	Chr12, NC_000012.12 (76344474..76348415, complement)	3942 nt	2	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	CEP290/80184	centrosomal protein 290	12q21.32	Chr12, NC_000012.12 (88049016..88142088, complement)	93073 nt	60	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	TMEM67/91147	transmembrane protein 67	8q22.1	Chr8, NC_000008.11 (93754844..93832653)	77810 nt	35	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	MKS1/54903	MKS transition zone complex subunit 1	17q22	Chr17, NC_000017.11 (58205441..58219255, complement)	13815 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	ARL6/84100	ADP ribosylation factor like GTPase 6	3q11.2	Chr3, NC_000003.12 (97764521..97801242)	36722 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	TTC8/123016	tetratricopeptide repeat domain 8	14q31.3	Chr14, NC_000014.9 (88824153..88881079)	56927 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	BBS9/27241	Bardet-Biedl syndrome 9	7p14.3	Chr7, NC_000007.14 (33129285..33635767)	506483 nt	27	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	BBS7/55212	Bardet-Biedl syndrome 7	4q27	Chr4, NC_000004.12 (121824329..121870474, complement)	46146 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	BBS2/583	Bardet-Biedl syndrome 2	16q13	Chr16, NC_000016.10 (56470403..56520024, complement)	49622 nt	19	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	MKKS/8195	MKKS centrosomal shuttling protein	20p12.2	Chr20, NC_000020.11 (10401009..10434222, complement)	33214 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	BBS5/129880	Bardet-Biedl syndrome 5	2q31.1	Chr2, NC_000002.12 (169479494..169506655)	27162 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	TRIM32/22954	tripartite motif containing 32	9q33.1	Chr9, NC_000009.12 (116687305..116701299)	13995 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	BBS4/585	Bardet-Biedl syndrome 4	15q24.1	Chr15, NC_000015.10 (72686207..72738473)	52267 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	BBS1/582	Bardet-Biedl syndrome 1	11q13.2	Chr11, NC_000011.10 (66510635..66533598)	22964 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	CFAP418/157657	cilia and flagella associated protein 418	8q22.1	Chr8, NC_000008.11 (95244913..95269201, complement)	24289 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	LZTFL1/54585	leucine zipper transcription factor like 1	3p21.31	Chr3, NC_000003.12 (45823316..45915724, complement)	92409 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	BBIP1/92482	BBSome interacting protein 1	10q25.2	Chr10, NC_000010.11 (110898730..110919366, complement)	20637 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	IFT27/11020	intraflagellar transport 27	22q12.3	Chr22, NC_000022.11 (36758211..36776119, complement)	17909 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	IFT172/26160	intraflagellar transport 172	2p23.3	Chr2, NC_000002.12 (27444377..27489743, complement)	45367 nt	53	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	IFT74/80173	intraflagellar transport 74	9p21.2	Chr9, NC_000009.12 (26947110..27066134)	119025 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	TRAPPC3/27095	trafficking protein particle complex subunit 3	1p34.3	Chr1, NC_000001.11 (36136572..36156053, complement)	19482 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
25	CEP19/84984	centrosomal protein 19	3q29	Chr3, NC_000003.12 (196706277..196712250, complement)	5974 nt	3	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
26	ALMS1/7840	ALMS1 centrosome and basal body associated protein	2p13.1	Chr2, NC_000002.12 (73385758..73609919)	224162 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
27	RPGRIP1L/23322	RPGRIP1 like	16q12.2	Chr16, NC_000016.10 (53598153..53703859, complement)	105707 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
28	TSPOAP1/9256	TSPO associated protein 1	17q22	Chr17, NC_000017.11 (58301231..58328795, complement)	27565 nt	32	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
29	COMT/1312	catechol-O-methyltransferase	22q11.21	Chr22, NC_000022.11 (19941772..19969975)	28204 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development