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Retinal disorders

Gene: TMEM231

Amber List (moderate evidence)

TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 20 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported with retinopathy as a feature of the condition.
Sources: Expert list
Created: 15 Oct 2020, 2:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 20 MIM#614970

Publications

History Filter Activity

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem231 has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: TMEM231.

27 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 MIM#614970 to Joubert syndrome 20, OMIM:614970

15 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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