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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: KMT2A

Red List (low evidence)

KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 9 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; gonzalez_mantilla_2016; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:33 p.m.

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

Phenotypes
Wiedemann-Steiner syndrome, 605130; Leukemia, myeloid/lymphoid or mixed-lineage;

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE
Phenotypes
  • Wiedemann-Steiner syndrome, 605130
  • Leukemia, myeloid/lymphoid or mixed-lineage
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KMT2A was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KMT2A was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE