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  3. TIE1
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Lymphoedema_nonsyndromic

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 2 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 38820174

3x families: 2x missense + 1x NMD

p.Gln682*: NMD and 17 hets in gnomad v4
Using mRNA from EBV-immortalised lymphoblasts , allele containing the variant was not detectable by RT-PCR
1x asymptomatic het son

p.Arg983Trp: 10 hets in gnomad v4
1x asymptomatic het daughter

p.Met1110Arg: 1 het in gnomad v4
1x asymptomatic mother

Functional studies demonstrated a reduction of protein secretion into the supernatant, reduction in phosphorylation and subsequent signalling activity.
Animal models were also done
Created: 5 Jun 2024, 12:38 a.m. | Last Modified: 5 Jun 2024, 12:38 a.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 11, MIM# 619401

Publications

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

Created: 5 Jun 2024, 12:38 a.m.
Last Modified: 5 Jun 2024, 12:38 a.m.
Panel version: 0.35

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad.
Sources: Literature
Created: 5 Jul 2021, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 11, MIM# 619401

Publications

Created: 5 Jul 2021, 7:37 a.m.

Panel version: 0.25

Details

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

History Filter Activity

5 Jun 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TIE1 were set to 32947856; 24764452; 38820174

5 Jun 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TIE1 were set to 32947856; 24764452; 38820174

5 Jun 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TIE1 were set to 32947856; 24764452

5 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tie1 has been classified as Green List (High Evidence).

5 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TIE1 was added gene: TIE1 was added to Lymphoedema_nonsyndromic. 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