GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TCOF1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD - several cases.Do you report variants in this gene as part of your current diagnostic practice? YES - for TCS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher Collins syndrome 1 154500

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Treacher Collins syndrome 1 154500

OMIM

606847

Clinvar variants

Variants in TCOF1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TCOF1 was added gene: TCOF1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 154500

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TCOF1