1. Panels
  2. Primary lymphoedema
  3. TIE1
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary lymphoedema

Gene: TIE1

Green List (high evidence)
TIE1 (tyrosine kinase with immunoglobulin like and EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000066056
EnsemblGeneIds (GRCh37): ENSG00000066056
OMIM: 600222, Gene2Phenotype
TIE1 is in 1 panel

5 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 3:23 p.m. | Last Modified: 10 Dec 2025, 3:23 p.m.
Panel Version: 4.20
Created: 10 Dec 2025, 3:23 p.m.
Last Modified: 10 Dec 2025, 3:23 p.m.
Panel version: 4.20

Arina Puzriakova (Genomics England Curator)

Comment on list classification: At least 6 families have been reported in literature with heterozygous variants in this gene and lymphedema which support inclusion on this panel with a Green rating at the next GMS panel update.
Created: 17 Jun 2025, 11:40 a.m. | Last Modified: 17 Jun 2025, 11:40 a.m.
Panel Version: 4.3
- PMID: 38820174 - three unrelated cases with different predicted pathogenic variants in the TIE1 gene identified in a primary lymphedema cohort of 755 individuals. Each family had an unaffected carrier indicating reduced penetrance. The TIE1 receptor, in complex with TIE2, plays a role in blood and lymphatic vessel development. The premature stop codon encoded an inactive truncated extracellular protein with decreased mRNA stability, while the missense variants decreased TIE1 signalling. Modelling the two missense variants in mice showed that the variants cause edema and are lethal in homozygous mice.
Created: 17 Jun 2025, 11:37 a.m. | Last Modified: 17 Jun 2025, 11:37 a.m.
Panel Version: 4.2
Created: 17 Jun 2025, 11:37 a.m.
Last Modified: 17 Jun 2025, 11:37 a.m.
Panel version: 4.2

Miel Theunis (UZ Leuven)

Green List (high evidence)

The expert group of M. Vikkula has shown that variants with a loss-of-function effect (nonsense and missense) are associated with late-onset (puberty or later) lymphedema.
Created: 18 Sep 2024, 2:23 p.m. | Last Modified: 18 Sep 2024, 2:23 p.m.
Panel Version: 3.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
lymphatic malformation-11 (LMPHM11, OMIM # 619401)

Publications

Created: 18 Sep 2024, 2:23 p.m.
Last Modified: 18 Sep 2024, 2:23 p.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Based on the expert review this gene has been given an Amber rating until more evidence is available.
Created: 2 Aug 2021, 12:17 p.m. | Last Modified: 2 Aug 2021, 12:17 p.m.
Panel Version: 2.15
Created: 2 Aug 2021, 12:17 p.m.
Last Modified: 2 Aug 2021, 12:17 p.m.
Panel version: 2.15

Zornitza Stark (Australian Genomics)

I don't know

Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad, hence Amber rating suggested.
Sources: Literature
Created: 8 Jul 2021, 8:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 11, MIM# 619401

Publications

Created: 8 Jul 2021, 8:41 a.m.

Panel version: 2.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lymphatic malformation 11, OMIM:619401
OMIM
600222
Clinvar variants
Variants in TIE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: TIE1.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to TIE1. Source Expert Review Green was added to TIE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tie1 has been classified as Amber List (Moderate Evidence).

17 Jun 2025, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: TIE1. Tag Q2_25_ promote_green tag was added to gene: TIE1.

17 Jun 2025, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TIE1 were set to 32947856; 24764452

2 Aug 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: TIE1.

2 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tie1 has been classified as Amber List (Moderate Evidence).

2 Aug 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TIE1 were changed from Lymphatic malformation 11, MIM# 619401 to Lymphatic malformation 11, OMIM:619401

8 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TIE1 was added gene: TIE1 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TIE1 were set to 32947856; 24764452 Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401 Review for gene: TIE1 was set to AMBER