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Intellectual disability syndromic and non-syndromic

Gene: THOC6

Green List (high evidence)

THOC6 (THO complex 6)
EnsemblGeneIds (GRCh38): ENSG00000131652
EnsemblGeneIds (GRCh37): ENSG00000131652
OMIM: 615403, Gene2Phenotype
THOC6 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability and congenital anomalies syndrome, at least 7 unrelated individuals reported.
Created: 15 Feb 2022, 7:19 a.m. | Last Modified: 15 Feb 2022, 7:19 a.m.
Panel Version: 0.4503

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beaulieu-Boycott-Innes syndrome, MIM# 613680

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Beaulieu-Boycott-Innes syndrome, MIM# 613680
OMIM
615403
Clinvar variants
Variants in THOC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thoc6 has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THOC6 were changed from to Beaulieu-Boycott-Innes syndrome, MIM# 613680

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THOC6 were set to

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THOC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THOC6 was added gene: THOC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THOC6 was set to Unknown