Retinal disorders
Gene: TMEM216EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels
3 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.Created: 27 Jan 2021, 1:49 p.m. | Last Modified: 27 Jan 2021, 1:49 p.m.
Panel Version: 2.146
Zornitza Stark (Australian Genomics)
Retinal phenotype associated with this ciliopathy.Created: 15 Oct 2020, 2:33 a.m. | Last Modified: 15 Oct 2020, 2:33 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 2, MIM# 608091
Publications
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
meckel syndromeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Joubert syndrome 2, OMIM:608091, MONDO:0011963
- Meckel syndrome 2, OMIM:603194, MONDO:0011296
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: TMEM216.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TMEM216. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: TMEM216.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TMEM216 were changed from Eye Disorders to Joubert syndrome 2, OMIM:608091, MONDO:0011963; Meckel syndrome 2, OMIM:603194, MONDO:0011296
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TMEM216 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TMEM216.
Created
Ellen McDonagh (Genomics England Curator)TMEM216 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red