Pierre Robin Sequence
Gene: TCOF1

TCOF1 (treacle ribosome biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000070814
EnsemblGeneIds (GRCh37): ENSG00000070814
OMIM: 606847, Gene2Phenotype
TCOF1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The majority of the variants reported are PTCs that lead to truncation or NMD, only a few missense have been reported (ClinVar; PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Extreme inter- and intra- familial phenotypic variation reported (PMID: 15150774).
Created: 29 Apr 2020, 5:12 a.m. | Last Modified: 29 Apr 2020, 5:12 a.m.

Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher Collins syndrome 1, MIM# 154500

Publications

Created: 29 Apr 2020, 5:12 a.m.
Last Modified: 29 Apr 2020, 5:12 a.m.
Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Treacher Collins syndrome 1, MIM# 154500

OMIM

606847

Clinvar variants

Variants in TCOF1

Penetrance

None

Publications

Panels with this gene