Ocular coloboma
Gene: TMEM231
TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Not recognised on G2P. Listed on GeneReviews. Only three published familiesCreated: 1 Dec 2016, 11:01 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.Created: 16 Mar 2016, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Joubert syndrome
- Meckel-Gruber syndrome
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
1 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
1 Dec 2016, Gel status: 1
Upload gene information
Alice Gardham (Genomics England)TMEM231 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review
1 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM231 was added to Ocular colobomapanel. Sources: Expert Review
1 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TMEM231 was created by ellenmcdonagh