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Intellectual disability syndromic and non-syndromic

Gene: GTF3C3

Green List (high evidence)

GTF3C3 (general transcription factor IIIC subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000119041
EnsemblGeneIds (GRCh37): ENSG00000119041
OMIM: 604888, Gene2Phenotype
GTF3C3 is in 3 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

12 more affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Created: 16 Jan 2025, 4:37 a.m. | Last Modified: 16 Jan 2025, 4:37 a.m.
Panel Version: 1.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, GTF3C3-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 7 Feb 2020, 1:30 a.m. | Last Modified: 7 Feb 2020, 1:30 a.m.
Panel Version: 0.2013

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, GTF3C3-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
OMIM
604888
Clinvar variants
Variants in GTF3C3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related

7 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtf3c3 has been classified as Green List (High Evidence).

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures

7 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GTF3C3 were set to

7 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GTF3C3 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: GTF3C3 was added gene: GTF3C3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF3C3 was set to Unknown