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Renal ciliopathies v5.1 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. Renal dysfunction was confirmed in 2 unrelated patients. Moreover, zebrafish bbip1 knockdown resulted in a ciliopathy phenotype, including bilateral cystic dilations of the pronephros. 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. Renal dysfunction was confirmed in 2 unrelated patients. Moreover, zebrafish bbip1 knockdown resulted in a ciliopathy phenotype, including bilateral cystic dilations of the pronephros. Hence, this gene should be promoted to Green at the next update.
Renal ciliopathies v5.1 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).
Renal ciliopathies v4.14 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from ?Bardet-Biedl syndrome 18, 615995 to Bardet-Biedl syndrome 18, OMIM:615995
Renal ciliopathies v4.13 BBIP1 Ida Ertmanska Publications for gene: BBIP1 were set to 24026985; 32055034
Renal ciliopathies v4.12 BBIP1 Ida Ertmanska Classified gene: BBIP1 as Amber List (moderate evidence)
Renal ciliopathies v4.12 BBIP1 Ida Ertmanska Added comment: Comment on list classification: There are 3 individuals reported in literature with biallelic BBIP1 variants and Bardet-Biedl syndrome. Renal dysfunction was confirmed in 2 unrelated patients. Moreover, zebrafish bbip1 knockdown resulted in a ciliopathy phenotype, including bilateral cystic dilations of the pronephros. Hence, this gene should be promoted to Green at the next update.
Renal ciliopathies v4.12 BBIP1 Ida Ertmanska Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v4.11 BBIP1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: BBIP1.
Renal ciliopathies v4.11 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
Renal ciliopathies v1.23 BBIP1 Eleanor Williams Publications for gene: BBIP1 were set to 24026985
Renal ciliopathies v1.22 BBIP1 Eleanor Williams Classified gene: BBIP1 as Amber List (moderate evidence)
Renal ciliopathies v1.22 BBIP1 Eleanor Williams Added comment: Comment on list classification: Updating this gene from red to amber as an additional case has now been reported, bringing the total to 2.
Renal ciliopathies v1.22 BBIP1 Eleanor Williams Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v1.15 BBIP1 Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v0.1 BBIP1 Eleanor Williams gene: BBIP1 was added
gene: BBIP1 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995