Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ARL6	gene	ARL6	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Retinitis pigmentosa 55, 613575;{Bardet Biedl syndrome 1, modifier of}, 209900;Bardet Biedl syndrome 3, 600151				15314642;15258860		False	3	100;0;0	2.16	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
BBS1	gene	BBS1	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854				12118255;23143442		False	3	100;0;0	2.16	False		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 10, 615987				16582908		False	3	100;0;0	2.16	False		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 12, 615989				17160889		False	3	100;0;0	2.16	False		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, 615981				11285252		False	3	100;0;0	2.16	False		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, 615982				11381270		False	3	100;0;0	2.16	False		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 5, 615983				15137946		False	3	100;0;0	2.16	False		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, 615984				12567324		False	3	100;0;0	2.16	False		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 9, 615986				16380913		False	3	100;0;0	2.16	False		ENSG00000122507	ENSG00000122507	HGNC:30000													
IFT27	gene	IFT27	Expert Review Green;NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 19, OMIM:615996				24488770;29704304;30761183;29588463		False	3	33;33;33	2.16	False		ENSG00000100360	ENSG00000100360	HGNC:18626													
IFT74	gene	IFT74	Expert Review Green;NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 20, 617119				27486776;32144365		False	3	0;0;100	2.16	False		ENSG00000096872	ENSG00000096872	HGNC:21424													
LZTFL1	gene	LZTFL1	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 17, 615994				22510444		False	3	33;33;33	2.16	False		ENSG00000163818	ENSG00000163818	HGNC:6741													
MKKS	gene	MKKS	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 6, 605231;McKusick-Kaufman syndrome, 236700				10973251;10802661		False	3	100;0;0	2.16	False		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 13, 615990;Meckel syndrome 1, 249000;Joubert syndrome 28, 617121				16415886;20177705;4886560		False	3	80;0;20	2.16	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
SDCCAG8	gene	SDCCAG8	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993				20835237		False	3	100;0;0	2.16	False		ENSG00000054282	ENSG00000054282	HGNC:10671													
TMEM67	gene	TMEM67	Expert Review Green;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	{Bardet-Biedl syndrome 14, modifier of}, 615991						False	3	67;0;33	2.16	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TTC8	gene	TTC8	Expert Review Green;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 8, 615985				14520415		False	3	100;0;0	2.16	False		ENSG00000165533	ENSG00000165533	HGNC:20087