Mandibulofacial Acrofacial dysostosis
Gene: MYT1EnsemblGeneIds (GRCh38): ENSG00000196132
EnsemblGeneIds (GRCh37): ENSG00000196132
OMIM: 600379, Gene2Phenotype
MYT1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five unrelated individuals reported with variants in this gene and OAV spectrum.Created: 8 Jul 2021, 4:03 a.m. | Last Modified: 8 Jul 2021, 4:03 a.m.
Panel Version: 0.37
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniofacial microsomia; OAV spectrum
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Craniofacial microsomia
- OAV spectrum
- OMIM
- 600379
- Clinvar variants
- Variants in MYT1
- 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: myt1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYT1 were changed from to Craniofacial microsomia; OAV spectrum
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYT1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYT1 was added gene: MYT1 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYT1 was set to Unknown