Mandibulofacial Acrofacial dysostosis

Gene: TCOF1

Green List (high evidence)

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

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). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).
Created: 29 Apr 2020, 4:12 a.m. | Last Modified: 29 Apr 2020, 4:14 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher Collins syndrome 1 154500

Publications

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

History Filter Activity

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcof1 has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500

29 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCOF1 were set to

29 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCOF1 was added gene: TCOF1 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCOF1 was set to Unknown