Hydrops fetalis
Gene: THSD1EnsemblGeneIds (GRCh38): ENSG00000136114
EnsemblGeneIds (GRCh37): ENSG00000136114
OMIM: 616821, Gene2Phenotype
THSD1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lymphatic malformation 13, MIM# 620244
Elena Savva (Victorian Clinical Genetics Services)
PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. Mother described as having Crohns disease but nothing else unusual, no comments on the father. Fx of 1/3 triplets with severe hydrops fetalis, not sequenced.
- Paper reviews previous NIHF cases and reports another homozygous PTC in two families (4, 2 affected) and a recurring homozygous missense (p.Cys206Tyr) in three families (6, 4, 3 affected).
- No mention of clinically affected heterozygotes.
PMID: 27895300- Mouse model has hydrocephaly with poor perfusion.
Sources: LiteratureCreated: 28 Jun 2022, 2:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nonimmune hydrops fetalis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lymphatic malformation 13, MIM# 620244
- OMIM
- 616821
- Clinvar variants
- Variants in THSD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THSD1 were changed from Hydrops fetalis MONDO:0015193, THSD1-related to Lymphatic malformation 13, MIM# 620244
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thsd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THSD1 were changed from nonimmune hydrops fetalis to Hydrops fetalis MONDO:0015193, THSD1-related
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: THSD1 was added gene: THSD1 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to PMID: 33569873; 27895300 Phenotypes for gene: THSD1 were set to nonimmune hydrops fetalis Review for gene: THSD1 was set to GREEN