Craniosynostosis
Gene: TMCO1EnsemblGeneIds (GRCh38): ENSG00000143183
EnsemblGeneIds (GRCh37): ENSG00000143183
OMIM: 614123, Gene2Phenotype
TMCO1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Craniosynostosis reported in a small number of affected individuals, also note founder mutation in Amish.
Sources: Expert listCreated: 3 Jul 2020, 5:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
- OMIM
- 614123
- Clinvar variants
- Variants in TMCO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmco1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmco1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMCO1 was added gene: TMCO1 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 20018682; 24424126; 24194475 Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Review for gene: TMCO1 was set to AMBER