Vascular Malformations_Germline
Gene: ELMO2

ELMO2 (engulfment and cell motility 2)
EnsemblGeneIds (GRCh38): ENSG00000062598
EnsemblGeneIds (GRCh37): ENSG00000062598
OMIM: 606421, Gene2Phenotype
ELMO2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Created: 11 Feb 2020, 1:14 a.m. | Last Modified: 11 Feb 2020, 1:14 a.m.

Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vascular malformation, primary intraosseous, MIM#606893

Publications

27476657

Created: 11 Feb 2020, 1:14 a.m.
Last Modified: 11 Feb 2020, 1:14 a.m.
Panel version: Imported from Vascular Maformations panel version 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Royal Melbourne Hospital

Phenotypes

Vascular malformation, primary intraosseous, MIM#606893

OMIM

606421

Clinvar variants

Variants in ELMO2

Penetrance

None

Publications

27476657

Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elmo2 has been classified as Green List (High Evidence).

2 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELMO2 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ELMO2 was added gene: ELMO2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893

Vascular Malformations_Germline Gene: ELMO2