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Retinal disorders

Gene: TMEM216

Amber List (moderate evidence)

TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 24 panels

3 reviews

Ivone Leong (Genomics England Curator)

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)

Green List (high evidence)

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)

Green List (high evidence)

meckel syndrome
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

History Filter Activity

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem216 has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: TMEM216.

27 Jan 2021, Gel status: 1

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

7 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TMEM216 were set to

7 Jan 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TMEM216.

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM216 was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM216 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red