Table 2 List of the genes related to Bardet-Biedl syndrome (at the date of 08/2023).

From: Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Gene symbol	BBS	Gene synonyms	Gene category	OMIM	Phenotype	Nb variations (Class 4/5) reported	Status	Reference sequence (RefSeq)	Chromosome	Total nb exons	CDS length (nt)	Protein length (AA)
BBS1	BBS1		BBSome	209900	BBS, RP	> 180	Core	NM_024649.4	11	17	1782	593
BBS2	BBS2	BBS2L1	BBSome	606151	BBS, RP	> 140	Core	NM_031885.3	16	17	2166	721
ARL6	BBS3	RP55	Other	608845	BBS, RP	> 30	Core	NM_032146.4	3	11	561	186
BBS4	BBS4		BBSome	600374	BBS	> 70	Core	NM_033028.4	15	18	1560	519
BBS5	BBS5		BBSome	603650	BBS	> 40	Core	NM_152384.2	2	17	1026	341
MKKS	BBS6		Chaperonin-like	604896	BBS, RP+polydactyly	> 70	Core	NM_018848.3	20	7	1713	570
BBS7	BBS7		BBSome	607590	BBS	> 60	Core	NM_176824.2	4	20	2148	715
TTC8	BBS8	RP51	BBSome	608132	BBS, RP	> 20	Core	NM_144596.2	14	16	1518	515
BBS9	BBS9	PTHB1	BBSome	607968	BBS, RP	> 60	Core	NM_198428.2	7	24	2559	887
BBS10	BBS10		Chaperonin-like	610148	BBS, RP	> 180	Core	NM_024685.3	12	2	2172	723
TRIM32	BBS11	HT2A, TATIP	Other	602290	BBS, LGMD	1 paper reporting a single BBS case (homozygous missense), many cases of LGMD	Questioned	NM_012210.3	9	2	1962	653
BBS12	BBS12		Chaperonin-like	610683	BBS	> 100	Core	NM_152618.2	4	3	2133	710
MKS1	BBS13	FLJ20345, POC12, BBS13	Other	609883	BBS, MKS	Mostly truncating variants in MKS patients. Few missenses. No clear association with BBS (clinical details and variant missing)	Need replication	NM_017777.3	17	20	1680	559
CEP290	BBS14	NPHP6, CEP290, MKS4, JBTS5, SLSN6	Other	610142	BBS, LCA, MKS, NPHP, JBTS, SLNS	3 truncating variants in 2 families with corresponding phenotype (2 papers)	Need replication	NM_025114.3	12	55	7440	2479
WDPCP	BBS15	fritz, hFrtz, CPLANE5	Other	613580	BBS, RP, MKS, OFD	1 splice variant in 1 family	Need replication	NM_015910.5	2	19	2469	746
SDCCAG8	BBS16	CCCAP, NPHP10, NY-CO-8, SLSN7	Other	613524	BBS, NPHP, SLSN	> 10	Core	NM_006642.3	1	21	2141	713
LZTFL1	BBS17		Other	606568	BBS	3 variants (2 truncating + 1 missense). 3 patients in 2 families.	Need replication	NM_020347.3	3	10	2360	299
BBIP1	BBS18	BBIP10	BBSome	613605	BBS	2 families + functional data.	Core Need replication	NM_001195304.1	10	5	312	103
IFT27	BBS19	RAYL	IFT	615870	BBS	3 families + functional data.	Core	NM_001177701.1	22	7	1104	186
IFT172	BBS20	NPHP17	IFT	607386	BBS, RP, SRTD	Truncating variants + missenses, 10 families (personal communication)	Core	NM_015662.2	2	48	5247	1749
CFAP48	BBS21	FLJ30600, CORD16, RP64, FAP418, MOT25, C8orf37	Other	614477	BBS, RP	1 truncating variant in 1 family	Need replication	NM_177965.3	8	6	624	207
IFT74	BBS22	CCDC2	IFT	608040	BBS, JBTS	Truncating variants, 3 families + functional data	Core	NM_025203.3	9	20	1803	600
CEP19	BBS23	C3orf34	Other	615586	BBS, Morbid Obesity	1 truncating variant in 1 family	Need replication	NM_032818.4	3	3	504	168
SCAPER	BBS24	ZNF291	Other	611611	BBS, RP + /-ID, RP	3 reports and non-supporting BBS phenotype	Need replication Questioned	NM_001353009.1	15	33	4211	1406
CEP164	BBS25	NPHP15	Other	614848	BBS, NPHP, JBTS	1 truncating variant in 1 family	Need replication	NM_014956.4	11	33	4383	1460
SCLT1	BBS26		Other	611399	BBS, SLSN, OFD	2 splice variants (one in frame deletion) in 2 families	Need replication	NM_144643.4	4	21	2067	689
NPHP1		NPH1, JBTS4, SLSN1		607100	NPHP		Modifier	NM_000272.3	2	20	2202	733
CCDC28B		MGC120, RP4-622L5.5		610162			Modifier
TMEM67		MKS3, MGC26979, JBTS6, NPHP11		609884	MKS, NPHP		Modifier
TTC21B		FLJ11457, JBTS11, NPHP12,IFT139B, THM1, FAP60, FLA17 IFT139		612014			Modifier
	Total									446	56934	18261

The publication references linked to the genes can be found with the OMIM number. The official genes names and their synonyms (HUGO Gene Nomenclature Committee) are given together with other annotations. Status of the gene regarding the syndrome has been assessed into several categories including gene undoubtedly associated with BBS (“Core”), gene with good evidence but requires confirmation (“Need replication”) and gene with some evidence but of low impact (“Questioned”). BBS Bardet-Biedl Syndrome, CDS Coding sequence, ID Intellectual Disability, JBTS Joubert Syndrome, LCA Leber Congenital Amaurosis, LGMD Limb Girdle Muscular Dystrophy, MKS Meckel Syndrome, NPHP Nephronophtisis, OFD Oro Facio Digital syndrome, RP Retinitis Pigmentosa, SLNS Senior-Løken Syndrome, SRTD Short-Rib Thoracic Dysplasia.

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Table 2 List of the genes related to Bardet-Biedl syndrome (at the date of 08/2023).

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