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Intellectual disability

Gene: TMEM231

Amber List (moderate evidence)

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

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Joubert syndrome (MIM:614970) is characterized by (amongst other symptoms) variable developmental delay, and ataxia. 2-3 separate cases of JS-causing variants: PMID:23012439, 2012 report 3 patients from 2 families of French-Canadian origin with compound heterozygosity for the same 2 variants in TMEM231(c.12T>A[p.Tyr4*]; c.625G>A[p.Asp209Asn]). PMID:27449316 (2016) report Joubert syndrome and Meckel syndrome in the same family, examining 2 brothers married to unrelated wives, both with affected children. The wife of the first brother was French-Canadian in origin, and a TMEM231 gene conversion in combination with c.712G>A; p.(Asp262Asn) was responsible for JS. Because the same variant combination was reported for both families in PMID:23012439, require an additional case before rating TMEM231 as diagnostic-grade.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 20, 614970 (includes developmental delay)

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to TMEM231. Panel: Intellectual disability Model of inheritance for gene TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene TMEM231 was set to ['23012439', ' 27449316']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM231 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM231 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen