1. Panels
  2. Severe early-onset obesity
  3. BBIP1
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Severe early-onset obesity

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

Obesity is a feature of BBS.
Sources: Expert list
Created: 1 Nov 2021, 5:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 18, MIM#615995

Publications

Created: 1 Nov 2021, 5:39 a.m.

Panel version: 0.44

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

1 Nov 2021, 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).

1 Nov 2021, 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).

1 Nov 2021, 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 Severe early-onset obesity. 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