Renal ciliopathies
Gene: BBIP1Comment on list classification: Updating this gene from red to amber as an additional case has now been reported, bringing the total to 2.Created: 1 Jul 2020, 4:03 p.m. | Last Modified: 1 Jul 2020, 4:03 p.m.
Panel Version: 1.22
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
One more 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.Created: 21 May 2020, 2:09 a.m. | Last Modified: 21 May 2020, 2:09 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 18, MIM#615995
Publications
Comment on list classification: Only one patient reported to dateCreated: 19 Dec 2016, 4:53 p.m.
Comment on list classification: Only one patient reported to dateCreated: 19 Dec 2016, 4:53 p.m.
Comment on list classification: One patient in OMIMCreated: 17 Dec 2015, 2:16 p.m.
Publications for gene: BBIP1 were set to 24026985
Gene: bbip1 has been classified as Amber List (Moderate Evidence).
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