Submission Details


non-immune hydrops fetalis
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
THSD1 was first reported in relation to autosomal recessive form of Non-immune hydrops fetalis (Shamseldin et al., 2015, PMID:26036949). At least 6 unique variants (e.g. missense, frameshift and nonsense) have been reported in humans. Variants in this gene have been reported in at least 8 probands in 5 publications (PMID:26036949; PMID:31130284;PMID:28600779; PMID:30055085; PMID: 33569873). Two publications with convincing evidence and no convincing contradictory evidence classified THSD1 as definitive. Gene is scored according to ClinGen classification.
PubMed IDs:
26036949 31130284 28600779 30055085 33569873
Assertion Criteria:
Submitter Submitted Date:

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