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Genetic Epilepsy

Gene: THOC2

Amber List (moderate evidence)

THOC2 (THO complex 2)
EnsemblGeneIds (GRCh38): ENSG00000125676
EnsemblGeneIds (GRCh37): ENSG00000125676
OMIM: 300395, Gene2Phenotype
THOC2 is in 9 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Seizures (in some patients) described in OMIM

PMID: 26166480 - gene-disease establishing paper, epilepsy described in 5/20 individuals where affected individuals were from three families. Only missense reported but all segregated well in families and had backing functional studies.

PMID: 29851191 - overlapping authors with ^, expanded cohort. Only 1/7 probands had epilepsy with an additional proband "suspected"
Sources: Literature
Created: 14 Feb 2024, 2:43 a.m.

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

Phenotypes
Intellectual developmental disorder, X-linked 12 MIM#300957

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked 12 MIM#300957
OMIM
300395
Clinvar variants
Variants in THOC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: thoc2 has been classified as Amber List (Moderate Evidence).

14 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: thoc2 has been classified as Amber List (Moderate Evidence).

14 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: THOC2 was added gene: THOC2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: THOC2 were set to PMID: 26166480; 29851191 Phenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12 MIM#300957 Review for gene: THOC2 was set to AMBER