Ductal plate malformation
Gene: BBS12
BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 20 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Bardet-Biedl syndrome 12 (615989)
- Tags
- OMIM
- 610683
- Clinvar variants
- Variants in BBS12
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Skeletal dysplasia
- Cystic kidney disease
- Fetal anomalies
- Skeletal ciliopathies
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe early-onset obesity
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Glaucoma (developmental)
- DDG2P
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: BBS12.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to BBS12. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS12 was added gene: BBS12 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12 (615989)