Severe early-onset obesity
Gene: MYT1LEnsemblGeneIds (GRCh38): ENSG00000186487
EnsemblGeneIds (GRCh37): ENSG00000186487
OMIM: 613084, Gene2Phenotype
MYT1L is in 7 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
>20 probands reported with syndromic obesityCreated: 1 Nov 2021, 12:24 a.m. | Last Modified: 1 Nov 2021, 12:24 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability and obesity (MIM#616521)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Mental retardation, autosomal dominant 39, MIM# 616521
- Obesity
- Tags
- OMIM
- 613084
- Clinvar variants
- Variants in MYT1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: MYT1L.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myt1l has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, OMIM:616521 to Mental retardation, autosomal dominant 39, MIM# 616521; Obesity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYT1L was added gene: MYT1L was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437 Phenotypes for gene: MYT1L were set to obesity; Mental retardation, autosomal dominant 39, OMIM:616521