DOT1L

DOT1 like histone lysine methyltransferase
OMIM: 607375, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green DOT1L in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265
Green DOT1L in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 Tags de novo
Amber DOT1L in Intellectual disability Level 2: Developmental disorders Version 11.86 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 Nil-Deshwar neurodevelopmental syndrome, MONDO:0979246 Tags Q4_26_promote_green