Lymphoedema_nonsyndromic
Gene: ERG

ERG (ERG, ETS transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000157554
EnsemblGeneIds (GRCh37): ENSG00000157554
OMIM: 165080, Gene2Phenotype
ERG is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 14, MIM# 620602

Created: 15 Nov 2023, 9:04 p.m.
Last Modified: 15 Nov 2023, 9:04 p.m.
Panel version: 0.34

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families with fs variants
2x NMD = 1x de novo + 1x mosaic father
1x protein truncating = 2 affected siblings with an unaffected father who wasn't sequenced

4th family with protein truncating variant but has other clinical features and lymphoedema was only identified upon chart review

over expression of mutant cDNA demonstrated mislocalisation into the cytoplasm
Sources: Literature
Created: 4 May 2023, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
primary lymphoedema MONDO#0019175, ERG-related

Publications

36928819

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2023, 2:26 a.m.

Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Lymphatic malformation 14, MIM# 620602

OMIM

165080

Clinvar variants

Variants in ERG

Penetrance

unknown

Publications

36928819

Panels with this gene

History Filter Activity

15 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERG were changed from primary lymphoedema MONDO#0019175, ERG-related to Lymphatic malformation 14, MIM# 620602

4 May 2023, Gel status: 3