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Home > Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy

Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy

Gene Symbol	Aliases	Full Gene Name	Chr	Disorder	Mode of Inheritance	OMIM	HGNC ID
BBS1		Bardet-Biedl syndrome 1	11q13	Bardet-Biedl syndrome	autosomal recessive	*209901	HGNC:966
BBS2		Bardet-Biedl syndrome 2	16q21	Bardet-Biedl syndrome	autosomal recessive	*606151	HGNC:967
ARL6	BBS3	ADP-ribosylation factor-like 6	3q12-q13	Bardet-Biedl syndrome	autosomal recessive	*608845	HGNC:13210
BBS4		Bardet-Biedl syndrome 4	15q22.3-q23	Bardet-Biedl syndrome	autosomal recessive	*600374	HGNC:969
BBS5		Bardet-Biedl syndrome 5	2q31	Bardet-Biedl syndrome	autosomal recessive	*603650	HGNC:970
MKKS	BBS6	McKusick-Kaufman syndrome	20p12	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	autosomal recessive	*604896	HGNC:7108
BBS7		Bardet-Biedl syndrome 7	4q27	Bardet-Biedl syndrome	autosomal recessive	*607590	HGNC:18758
TTC8	BBS8	tetratricopeptide repeat domain 8	14q31.3	Bardet-Biedl syndrome	autosomal recessive	*608132	HGNC:20087
BBS9	B1; PTHB1	Bardet-Biedl syndrome 9	7p14	Bardet-Biedl syndrome	autosomal recessive	*607968	HGNC:30000
BBS10	C12orf58	Bardet-Biedl syndrome 10	12q21.2	Bardet-Biedl syndrome	autosomal recessive	*610148	HGNC:26291
TRIM32	RP11- 67K19.1; BBS11; HT2A; LGMD2H; TATIP	tripartite motif containing 32	9q33.1	Bardet-Biedl syndrome	autosomal recessive	*602290	HGNC:16380
BBS12	C4orf24	Bardet-Biedl syndrome 12	4q27	Bardet-Biedl syndrome	autosomal recessive	*610683	HGNC:26648
MKS1	BBS13; FLJ20345; MES; MKS; POC12	Meckel syndrome type 1	17q22	Bardet-Biedl syndrome	autosomal recessive	*609883	HGNC:7121
PHF6	BFLS	PHD finger protein 6	Xq26.3	Borjeson-Forssman-Lehmann syndrome	X-linked recessive	*300414	HGNC:18145
ALMS1		Alstrom syndrome 1	2p13.1	Alström syndrome	autosomal recessive	*606844	HGNC:428
GNAS	GNAS1	GNAS complex locus	20q13.2	Albright Hereditary Osteodystrophy	autosomal dominant	+139320	HGNC:4392