TCOF1

treacle ribosome biogenesis factor 1
OMIM: 606847, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TCOF1 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1, MIM# 154500
Green TCOF1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1, MIM# 154500
Green TCOF1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1, MIM# 154500
Green TCOF1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Treacher-Collins syndrome (MONDO:0002457)
Green TCOF1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1 154500
Green TCOF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Treacher Collins syndrome 1
Green TCOF1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 1 TCS1
Green TCOF1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 1, MIM# 154500
Red TCOF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Treacher Collins syndrome 1, MIM# 154500