1. Panels
  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. KMT5B
Genes in panel
Prev Next
STRs in panel
Prev Next

Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: KMT5B

Red List (low evidence)
KMT5B (lysine methyltransferase 5B)
EnsemblGeneIds (GRCh38): ENSG00000110066
EnsemblGeneIds (GRCh37): ENSG00000110066
OMIM: 610881, Gene2Phenotype
KMT5B is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo loss of function variant was identified within the 100kGP craniosynostosis cohort: c.557T>A; p.Leu186* (PMID:34429528).
Sources: Literature
Created: 23 Jul 2023, 12:42 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 12:42 p.m.

Panel version: 4.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
610881
Clinvar variants
Variants in KMT5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KMT5B was added gene: KMT5B was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 34429528; 36980886 Phenotypes for gene: KMT5B were set to craniosynostosis, MONDO:0015469 Review for gene: KMT5B was set to RED