Retinal disordersGene: TMEM216
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
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Tag for-review was removed from gene: TMEM216.
Source Expert Review Green was added to TMEM216. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TMEM216.
Phenotypes for gene: TMEM216 were changed from Eye Disorders to Joubert syndrome 2, OMIM:608091, MONDO:0011963; Meckel syndrome 2, OMIM:603194, MONDO:0011296
Publications for gene: TMEM216 were set to
Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to TMEM216.
TMEM216 was created by ellenmcdonagh
TMEM216 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red