Mandibulofacial Acrofacial dysostosis
Gene: TCOF1
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
Gene: tcof1 has been classified as Green List (High Evidence).
Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Publications for gene: TCOF1 were set to
Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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