Primary lymphoedema

Gene: TIE1

Amber List (moderate 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

2 reviews

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

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

Details

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

History Filter Activity

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