Retinal disorders
Gene: BBIP1
single report onlyCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Seems to only be one case report in the literature. Is rated red on the Bardet Biedl version 1 panel.Created: 1 Jun 2016, 9:49 a.m.
Source NHS GMS was added to BBIP1.
This gene has been classified as Red List (Low Evidence).
Publications for 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.
Publications for 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.
Publications for BBIP1 were set to 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.
This gene has been classified as Amber List (Moderate Evidence).
BBIP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBIP1 was created by ellenmcdonagh