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Retinal disorders v8.108 BBIP1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: BBIP1.
Retinal disorders v8.108 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from Bardet-Biedl syndrome 18, OMIM:615995 to Bardet-Biedl syndrome 18, OMIM:615995; Bardet-Biedl syndrome 18, MONDO:0014446
Retinal disorders v8.107 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from Genetic Retinal Degeneration Conditions to Bardet-Biedl syndrome 18, OMIM:615995
Retinal disorders v8.106 BBIP1 Ida Ertmanska Publications for gene: BBIP1 were set to PMID: 24026985 - Scheidecker et al (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb; 51(2):132-6. - Report a novel homozygous nonsense mutation, c.173T>G, p.Leu58Ter. Het in father; mother and sibling's samples not available for testing. Three functional assays confirm that this mutation has a major biological effect underlying the phenotype observed in the patient. PMID: 1908107 - publication describing function of the protein.
Retinal disorders v8.105 BBIP1 Ida Ertmanska Mode of inheritance for gene: BBIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.104 BBIP1 Ida Ertmanska Classified gene: BBIP1 as Amber List (moderate evidence)
Retinal disorders v8.104 BBIP1 Ida Ertmanska Added comment: Comment on list classification: There are 3 individuals reported in literature with biallelic BBIP1 variants and Bardet-Biedl syndrome. Retinal degeneration was confirmed in 2 unrelated patients. Moreover, zebrafish bbip1 knockdown resulted in abnormal retinal development. Hence, this gene should be promoted to Green at the next update.
Retinal disorders v8.104 BBIP1 Ida Ertmanska Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.103 BBIP1 Ida Ertmanska reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24026985, 32055034, 37239474; Phenotypes: Bardet-Biedl syndrome 18, OMIM:615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 BBIP1 Gavin Arno reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.