Familial Neural Tube Defects
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
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Intellectual disability
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Familial Neural Tube Defects
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)TMEM231 was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)TMEM231 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen