Mandibulofacial Acrofacial dysostosis
Gene: TMCO1
Clinical features include severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion.
More than 20 individuals reported. c.292_293del (p.Ser98*) variant has been identified in multiple individuals from different ethnicities.Created: 7 Aug 2021, 7:49 a.m. | Last Modified: 7 Aug 2021, 7:49 a.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Publications
Gene: tmco1 has been classified as Green List (High Evidence).
Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Publications for gene: TMCO1 were set to
Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: TMCO1 was added gene: TMCO1 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMCO1 was set to Unknown