Retinal disorders
Gene: TMEM231The 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: New gene added by Zornitza Stark (Australian Genomics). 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 Green at the next review.Created: 27 Jan 2021, 2:36 p.m. | Last Modified: 27 Jan 2021, 2:36 p.m.
Panel Version: 2.148
Three unrelated families reported with retinopathy as a feature of the condition.
Sources: Expert listCreated: 15 Oct 2020, 2:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 MIM#614970
Publications
Tag for-review was removed from gene: TMEM231.
Source Expert Review Green was added to TMEM231. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TMEM231.
Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 MIM#614970 to Joubert syndrome 20, OMIM:614970
gene: TMEM231 was added gene: TMEM231 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM231 were set to 23012439; 27449316 Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970 Review for gene: TMEM231 was set to GREEN