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Intellectual disability

Gene: THOC2

Green List (high evidence)

THOC2 (THO complex 2)
EnsemblGeneIds (GRCh38): ENSG00000125676
EnsemblGeneIds (GRCh37): ENSG00000125676
OMIM: 300395, Gene2Phenotype
THOC2 is in 4 panels

4 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as ID is part of the spectrum described in the paper 26166480
Created: 10 Nov 2017, 3:47 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

I don't know

To be reviewed by the clinical team for inclusion on the ID panel. Probable DD-G2P gene for MRX12 (MIM:300957) but sufficient (>3) cases in PMID:26166480 to support causation of ID-relevant phenotype: In affected members of 4 unrelated families from different populations with X-linked mental retardation-12 (MRX12; MIM:300957), Kumar et al. (2015, PMID:26166480) identified 4 different hemizygous missense mutations in the THOC2 gene.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 12/35, 300957

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked 12/35, 300957
OMIM
300395
Clinvar variants
Variants in THOC2
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 mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to THOC2. Panel: Intellectual disability Model of inheritance for gene THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene THOC2 was set to ['26166480', ' 19377476']

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: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THOC2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

THOC2 was created by ellenmcdonagh