DDG2P
Gene: GTF3C3

GTF3C3 (general transcription factor IIIC subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000119041
EnsemblGeneIds (GRCh37): ENSG00000119041
OMIM: 604888, Gene2Phenotype
GTF3C3 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy are moderate, biallelic_autosomal and loss of function (PMID:39636576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03915.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy; MONDO:0100038

Publications

39636576

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy
MONDO:0100038

OMIM

604888

Clinvar variants

Variants in GTF3C3

Penetrance

None

Publications

39636576

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GTF3C3 was added gene: GTF3C3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to 39636576 Phenotypes for gene: GTF3C3 were set to GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy; MONDO:0100038

DDG2P Gene: GTF3C3