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Intellectual disability syndromic and non-syndromic

Gene: MYT1L

Green List (high evidence)

MYT1L (myelin transcription factor 1 like)
EnsemblGeneIds (GRCh38): ENSG00000186487
EnsemblGeneIds (GRCh37): ENSG00000186487
OMIM: 613084, Gene2Phenotype
MYT1L is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems.
Created: 7 Sep 2020, 5:25 a.m. | Last Modified: 7 Sep 2020, 5:25 a.m.
Panel Version: 0.2967

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 39, MIM# 616521

Publications

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 39 616521 AD

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 39, MIM# 616521
Tags
SV/CNV
OMIM
613084
Clinvar variants
Variants in MYT1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: MYT1L.

7 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYT1L were set to 28859103

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myt1l has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYT1L were set to

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYT1L was added gene: MYT1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYT1L was set to Unknown