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Intellectual disability

Gene: THOC6

Green List (high evidence)

THOC6 (THO complex 6)
EnsemblGeneIds (GRCh38): ENSG00000131652
EnsemblGeneIds (GRCh37): ENSG00000131652
OMIM: 615403, Gene2Phenotype
THOC6 is in 4 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 14 Nov 2017, 10:48 a.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Created: 31 Oct 2017, 11:22 a.m.
Relevant ID phenotype: BBIS (MIM:613680) is characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. >3 unrelated cases reported in the literature of patients with BBIS (including ID) and homozygous or compound heterozygous variants in THOC6 from varied populations including Hutterite (PMID:23621916), Saudi (PMID:26739162) and European (PMID:27295358), Plus 3 unrelated cases in (PMID:27102954) from France, USA and Iran.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beaulieu-Boycott-Innes syndrome, 613680 (includes developmental delay and mental retardation)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Beaulieu-Boycott-Innes syndrome, 613680
  • Includes developmental delay and mental retardation
OMIM
615403
Clinvar variants
Variants in THOC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to THOC6.

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.

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for THOC6 were set to Beaulieu-Boycott-Innes syndrome, 613680; Includes developmental delay and mental retardation

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

THOC6 was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

THOC6 was created by Ellen McDonagh