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DDG2P

Gene: KMT5B

Green List (high evidence)

KMT5B (lysine methyltransferase 5B)
EnsemblGeneIds (GRCh38): ENSG00000110066
EnsemblGeneIds (GRCh37): ENSG00000110066
OMIM: 610881, Gene2Phenotype
KMT5B is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KMT5B syndrome
OMIM
610881
Clinvar variants
Variants in KMT5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KMT5B was added gene: KMT5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 29276005; 28135719 Phenotypes for gene: KMT5B were set to KMT5B syndrome