TMCO1

transmembrane and coiled-coil domains 1
OMIM: 614123, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber TMCO1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Green TMCO1 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Green TMCO1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Green TMCO1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TMCO1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 cerebrofaciothoracic dysplasia MONDO:0008952
Green TMCO1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Green TMCO1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Green TMCO1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME CFSMR Cleft palate
Green TMCO1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Green TMCO1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980