1. Panels
  2. Deafness_IsolatedAndComplex
  3. TCOF1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Hearing Loss on 17/09/2019 - https://search.clinicalgenome.org/CCID:006342

The mechanism of disease is haploinsufficiency.
Sources: Other
Created: 6 May 2024, 7:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher-Collins syndrome (MONDO:0002457)

Publications

  • https://search.clinicalgenome.org/CCID:006342

Created: 6 May 2024, 7:15 a.m.

Panel version: 1.180

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Treacher-Collins syndrome (MONDO:0002457)
OMIM
606847
Clinvar variants
Variants in TCOF1
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:006342
Panels with this gene

History Filter Activity

7 May 2024, 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).

7 May 2024, 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).

7 May 2024, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcof1 has been removed from the panel.

6 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TCOF1 was added gene: TCOF1 was added to Deafness_IsolatedAndComplex. Sources: Other Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCOF1 were set to https://search.clinicalgenome.org/CCID:006342 Phenotypes for gene: TCOF1 were set to Treacher-Collins syndrome (MONDO:0002457) Review for gene: TCOF1 was set to GREEN