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  3. DOT1L
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Fetal anomalies

Gene: DOT1L

Green List (high evidence)
DOT1L (DOT1 like histone lysine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000104885
EnsemblGeneIds (GRCh37): ENSG00000104885
OMIM: 607375, Gene2Phenotype
DOT1L is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Green on DDG2P panel. Nil et al. 2023 identified 9 unrelated individuals with 7 different de novo heterozygous missense variants. All probands had some degree of GDD and most had one or more major congenital anomalies; Variable congenital anomalies were seen in the patients: 7 had brain anomalies (cortical dysplasia, periventricular heterotopia, cysts in corpus callosum, trincated corpus callosum, cerebellar atrophy, megalencephaly), 5 had cardiac defects (4 septation defects ASD, PLSVC, VSD) and 4 had urogenital abnormalities. Four patients had microcephaly or small head circumference and 4 had short stature. DNA methylation studies of 6 of the suspected disease causing variants showed distinct methylation profile. Trnasfaection studies oof HEK293T cells showed increased methylation levels - suggests GoF. Likely associated with prenatal phenotype.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nil-Deshwar neurodevelopmental syndrome, OMIM:621265

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nil-Deshwar neurodevelopmental syndrome, OMIM:621265
OMIM
607375
Clinvar variants
Variants in DOT1L
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 for gene: DOT1L

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: DOT1L was added gene: DOT1L was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted