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  3. DOT1L
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DDG2P

Gene: DOT1L

Green List (high evidence)
DOT1L (DOT1 like histone lysine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000104885
EnsemblGeneIds (GRCh37): ENSG00000104885
OMIM: 607375, Gene2Phenotype
DOT1L is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease DOT1L-related neurodevelopmental disorder with intracranial anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37827158).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DOT1L-related neurodevelopmental disorder with intracranial anomalies

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DOT1L-related neurodevelopmental disorder with intracranial anomalies
Tags
de novo gene-checked
OMIM
607375
Clinvar variants
Variants in DOT1L
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: DOT1L.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: DOT1L.

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DOT1L was added gene: DOT1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DOT1L were set to 37827158 Phenotypes for gene: DOT1L were set to DOT1L-related neurodevelopmental disorder with intracranial anomalies Mode of pathogenicity for gene: DOT1L was set to Other