Skeletal dysplasia
Gene: TMEM216EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
polydactyly-syndactyly-triphalangism SD gp. green - many variants, polydactyly reasonably prevalent; 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 2 608091; Meckel syndrome 2 603194
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: TMEM216; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with Joubert syndrome 2 608091 in G2P. At least two variants reported in Joubert syndrome 2 608091 and at least three variants in Meckel syndromeCreated: 12 Jul 2016, 2 p.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 2 608091; Meckel syndrome 2 603194
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
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Meckel syndrome 2 603194
- Joubert syndrome 2 608091
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Familial Neural Tube Defects
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Meckel syndrome 2 603194; Joubert syndrome 2 608091 for gene: TMEM216
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TMEM216. 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).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TMEM216 were set to Joubert syndrome 2 608091; Meckel syndrome 2 603194
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TMEM216 was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)TMEM216 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)TMEM216 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)TMEM216 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TMEM216 was added to Unexplained skeletal dysplasiapanel. Sources: