Lymphoedema_nonsyndromic
Gene: TIE1
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 doneCreated: 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
Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad.
Sources: LiteratureCreated: 5 Jul 2021, 7:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lymphatic malformation 11, MIM# 619401
Publications
Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Publications for gene: TIE1 were set to 32947856; 24764452
Gene: tie1 has been classified as Green List (High Evidence).
Gene: tie1 has been classified as Amber List (Moderate Evidence).
Gene: tie1 has been classified as Amber List (Moderate Evidence).
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