Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Joubert syndrome 20 (614970)
- Meckel syndrome 11 (615397)
- Tags
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Neurological ciliopathies
- Intellectual disability
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TMEM231.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: I have a patient with OFD1 and
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to TMEM231. Rating Changed from Amber List (moderate evidence) to No List (delete)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM231 was added gene: TMEM231 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 (614970); Meckel syndrome 11 (615397)