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Retinal disorders v9.1 BBIP1 Ida Ertmanska changed review comment from: 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.; to: Comment on list classification: There are 3 individuals reported in literature with biallelic BBIP1 variants and Bardet-Biedl syndrome. Retinal degeneration was confirmed in 3 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 v9.1 BBIP1 Ida Ertmanska changed review comment from: PMID: 37239474 Nawaz et al., 2023
Homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B (Pakistani origin). Affected individual with suspected Bardet–Biedl Syndrome presented with polydactyly, retinal degeneration, obesity, hypogonadism, and renal abnormality. No ID/DD seen.

PMID: 32055034 Shamseldin et al., 2020
A patient with classical BBS (18DG0012) harboured a homozygous novel variant NM_001195305.1:c.38–6T > C (aberrant splicing confirmed by RT-PCR with 86% NMD. OMIM states "The patient was reported to have classic features of BBS, with obesity, impaired intellectual development, polydactyly, and end-stage retinitis pigmentosa." but I was not able to verify this in the primary publication.

PMID: 24026985 Scheidecker et al., 2014
Italian BBS patient with a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. No BBIP1 protein could be detected in fibroblasts from the patient. He presented with retinitis pigmentosa, obesity, kidney failure, cognitive disability, and brachydactyly. He was diagnosed as affected with BBS at 49 years old. He presented an end-stage renal failure 4 years after the diagnosis.
Functional evidence: morpholino knockdown of bbip1 in zebrafish leads to ciliopathy phenotypes: 20% of morphants present with situs inversus; morphants showed abnormal retinal development, and bilateral cystic dilations of the pronephros (an equivalent structure to the human kidney).; to: PMID: 37239474 Nawaz et al., 2023
Homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B (Pakistani origin). Affected individual with suspected Bardet–Biedl Syndrome presented with polydactyly, retinal degeneration, obesity, hypogonadism, and renal abnormality. No ID/DD seen.

PMID: 32055034 Shamseldin et al., 2020
A patient with classical BBS (18DG0012) harboured a homozygous novel variant NM_001195305.1:c.38–6T > C (aberrant splicing confirmed by RT-PCR with 86% NMD). Phenotype: Obesity, ID, polydactyly (s/p removal), end stage RP.

PMID: 24026985 Scheidecker et al., 2014
Italian BBS patient with a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. No BBIP1 protein could be detected in fibroblasts from the patient. He presented with retinitis pigmentosa, obesity, kidney failure, cognitive disability, and brachydactyly. He was diagnosed as affected with BBS at 49 years old. He presented an end-stage renal failure 4 years after the diagnosis.
Functional evidence: morpholino knockdown of bbip1 in zebrafish leads to ciliopathy phenotypes: 20% of morphants present with situs inversus; morphants showed abnormal retinal development, and bilateral cystic dilations of the pronephros (an equivalent structure to the human kidney).
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.