This Panel is marked as Retired
Bardet-Biedl Syndrome
Gene: TMEM67
TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels
2 reviews
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
216360; 607361; 613550; 610688
Caroline Wright (Genomics England Curator)
Comment when marking as ready: OMIM: potential modifierCreated: 17 Dec 2015, 2:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Bardet‐Biedl syndrome 14, modifier of}
- 216360
- 607361
- 613550
- 610688
- OMIM
- 609884
- Clinvar variants
- Variants in TMEM67
- Penetrance
- Complete
- Panels with this gene
-
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Cholestasis
- Familial Neural Tube Defects
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
1 Feb 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TMEM67 were set to {Bardet‐Biedl syndrome 14, modifier of}; 216360; 607361; 613550; 610688
1 Feb 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TMEM67 was changed to BIALLELIC, autosomal or pseudoautosomal
17 Dec 2015, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()TMEM67 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen