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Ciliopathies

Gene: BBIP1

Amber List (moderate evidence)
BBIP1 (BBSome interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000214413
EnsemblGeneIds (GRCh37): ENSG00000214413
OMIM: 613605, Gene2Phenotype
BBIP1 is in 6 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Created: 20 May 2020, 4:13 a.m. | Last Modified: 20 May 2020, 4:13 a.m.
Panel Version: 0.162
PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Created: 20 May 2020, 4:13 a.m. | Last Modified: 20 May 2020, 4:13 a.m.
Panel Version: 0.162

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl Syndrome

Publications

Created: 20 May 2020, 4:13 a.m.
Last Modified: 20 May 2020, 4:13 a.m.
Panel version: 0.162

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Created: 11 Jan 2020, 6:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, MIM#615995

Publications

Created: 11 Jan 2020, 6:19 a.m.

Panel version: 0.174

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
OMIM
613605
Clinvar variants
Variants in BBIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBIP1 were set to 24026985

11 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbip1 has been classified as Amber List (Moderate Evidence).

11 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbip1 has been classified as Amber List (Moderate Evidence).

11 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBIP1 was added gene: BBIP1 was added to Ciliopathies_VCGS. Sources: Expert list 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, MIM#615995 Review for gene: BBIP1 was set to AMBER