TCOF1:Ensemblv115

treacle ribosome biogenesis factor 1
OMIM: 606847, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TCOF1 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 1, MIM# 154500

Green TCOF1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 1, MIM# 154500

Green TCOF1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Treacher-Collins syndrome (MONDO:0002457)

Green TCOF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 1 154500

Green TCOF1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • TREACHER COLLINS SYNDROME 1
  • TCS1

Green TCOF1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 1, MIM# 154500