Genomics England

Genes and Entities

Bardet Biedl syndrome (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R107

Signed off date: 18 Feb 2020

Panel types: GMS Rare Disease, GMS signed-off

See this panel in PanelApp

15 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A