Skeletal dysplasia
Gene: TMEM231EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
green - many variants, polydactyly reasonably prevalent. not in Bonafe et al (2015) AJMG 167A:28692892. Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970; Meckel syndrome 11 615397
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TMEM231; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM. At least six variants reported between these two related phenotypesCreated: 1 Aug 2016, 9:28 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970; Meckel syndrome 11 615397
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome 20 614970
- Meckel syndrome 11 615397
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- Ocular coloboma
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Joubert syndrome 20 614970; Meckel syndrome 11 615397 for gene: TMEM231
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TMEM231. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TMEM231 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TMEM231 were set to Joubert syndrome 20 614970; Meckel syndrome 11 615397
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TMEM231 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)TMEM231 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)TMEM231 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TMEM231 was added to Unexplained skeletal dysplasiapanel. Sources: