KMT2A

lysine methyltransferase 2A
OMIM: 159555, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green KMT2A in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 ESID Registry 20171117 IUIS Classification December 2019 ESID Registry 20171117 Phenotypes Wiedemann-Steiner syndrome with Congenital immunodeficiency Unclassified antibody deficiency Combined immunodeficiencies with associated or syndromic features Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
Green KMT2A in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 ESID Registry 20171117 Phenotypes Wiedemann-Steiner syndrome, OMIM:605130
Red KMT2A in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Green KMT2A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Wiedemann-Steiner syndrome, OMIM:605130
Green KMT2A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WIEDEMANN-STEINER SYNDROME 605130
Amber KMT2A in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Wiedemann-Steiner syndrome, OMIM:605130
Green KMT2A in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Wiedemann-Steiner syndrome, OMIM:605130