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Intellectual disability

Gene: TMEM240

Green List (high evidence)

TMEM240 (transmembrane protein 240)
EnsemblGeneIds (GRCh38): ENSG00000205090
EnsemblGeneIds (GRCh37): ENSG00000205090
OMIM: 616101, Gene2Phenotype
TMEM240 is in 7 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype: "Firstly, disease onset occurs early with the delayed acquisition of cognitive and motor skills. Secondly, the most striking sign is mild to severe mental retardation early evidenced at school with a variable degree of frontal behaviour disorders". Sufficient cases for inclusion.
Created: 14 Nov 2017, 1:44 p.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and literature.
Created: 31 Oct 2017, 11:25 a.m.
Spinocerebellar ataxia-21 (MIM:607454) phenotype inclues delayed motor and cognitive skills, and mild to severe mental retardation. In affected members of >3 unrelated French families with spinocerebellar ataxia-21 (MIM:607454), Delplanque et al. (2014, PMID:25070513) identified 6 different heterozygous mutations in the TMEM240 gene- 5 missense and 1 truncating. Helen Brittain notes that the phenotypic detail is not strictly typical of early onset global DD/ID that we are capturing for the ID panel. However, as there are 8 families, several variants and a reproducible and specific phenotype (SCA), a Green rating was confirmed. Note that TMEM240 is also rated Green on the 'Hereditary ataxia' panel.
Created: 31 Oct 2017, 9:23 a.m.

Phenotypes
Spinocerebellar ataxia 21, 607454

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:44 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; Nijmegen_ID_candidates; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 21, 607454
OMIM
616101
Clinvar variants
Variants in TMEM240
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to TMEM240. Panel: Intellectual disability Publications for gene TMEM240 was set to ['25070513']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

TMEM240 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

TMEM240 was created by BRIDGE