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  3. EHMT1
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Congenital Heart Defect

Gene: EHMT1

Green List (high evidence)
EHMT1 (euchromatic histone lysine methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000181090
EnsemblGeneIds (GRCh37): ENSG00000181090
OMIM: 607001, Gene2Phenotype
EHMT1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Deletions are common. Key phenotypic features include ID/dysmorphism/congenital anomalies including CHD. More than 100 individuals reported.
Created: 6 Jun 2021, 3:16 a.m. | Last Modified: 6 Jun 2021, 3:16 a.m.
Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kleefstra syndrome 1, MIM# 610253; MONDO:0027407

Publications

Created: 6 Jun 2021, 3:16 a.m.
Last Modified: 6 Jun 2021, 3:16 a.m.
Panel version: 0.106

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1, MIM# 610253
  • MONDO:0027407
Tags
SV/CNV
OMIM
607001
Clinvar variants
Variants in EHMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jun 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: EHMT1.

6 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ehmt1 has been classified as Green List (High Evidence).

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407

6 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EHMT1 were set to

6 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EHMT1 was added gene: EHMT1 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EHMT1 was set to Unknown