Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: BBS2

Green List (high evidence)

BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 16 panels

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History Filter Activity

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BBS2 was added gene: BBS2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2; Retinitis pigmentosa 74