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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. EHMT1
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: EHMT1

Red List (low evidence)
EHMT1 (euchromatic histone lysine methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000181090
EnsemblGeneIds (GRCh37): ENSG00000181090
OMIM: 607001, Gene2Phenotype
EHMT1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo splicing variant was identified in EHMT1 (c.2018+1G>C) within the Norwegian cohort with syndromic craniosynostosis (PMID:33288889).
Sources: Literature
Created: 20 Jul 2023, 11:27 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 11:27 a.m.

Panel version: 4.120

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
607001
Clinvar variants
Variants in EHMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EHMT1 was added gene: EHMT1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EHMT1 were set to 33288889; 36980886 Phenotypes for gene: EHMT1 were set to craniosynostosis, MONDO:0015469 Review for gene: EHMT1 was set to RED