Clefting
Gene: TCF12

TCF12 (transcription factor 12)
EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Clefting has only been rarely reported in patients with TCF12 variants and hence this gene should be rated red.

PMID:23354436 - One of 73 individuals (from 38 families) reported with craniosynostosis and identified with heterozygous variants in TCF12 gene had cleft lip and cleft palate.

PMID:31353793 - Of two cases reported with heterozygous TCF12 variants, one had hidden cleft palate.

DECIPHER database - One of 11 patients with heterozygous sequence variants in TCF12 had bifid uvula.
Sources: Literature
Created: 25 Jun 2023, 11:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 3, OMIM:615314

Publications

Created: 25 Jun 2023, 11:43 a.m.

Panel version: 4.76

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

Craniosynostosis 3, OMIM:615314

OMIM

600480

Clinvar variants

Variants in TCF12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TCF12 was added gene: TCF12 was added to Clefting. Sources: Literature Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF12 were set to 23354436; 31353793; 37010288 Phenotypes for gene: TCF12 were set to Craniosynostosis 3, OMIM:615314 Review for gene: TCF12 was set to RED

Clefting Gene: TCF12