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Mendeliome

Gene: THOC2

Green List (high evidence)

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

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple (>10) males with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).
Created: 18 May 2021, 12:22 a.m. | Last Modified: 18 May 2021, 12:23 a.m.
Panel Version: 0.7637

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 12/35 MIM#300957
OMIM
300395
Clinvar variants
Variants in THOC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thoc2 has been classified as Green List (High Evidence).

18 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THOC2 were set to

18 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THOC2 was added gene: THOC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: THOC2 was set to Unknown