Fetal hydrops

Gene: GLE1

Comment on list classification: Kept rating as red based on Reviewer comments, and localization of disorder to Finnish population.

Created: 16 Dec 2016, 10:28 a.m.

LAAHD (OMIM:618890) and LCCS (OMIM:253310) are allelic disorders. LCCS is always fatal during the fetal period and presents with severe hydrops. Infants with LAAHD survive longer than those with LCCS, and when present, hydrops are mild (See PMID:7821908, Vuopala et al., 1995). Both are disorders of the Finnish population.

Created: 16 Dec 2016, 10:27 a.m.

Comment on mode of inheritance: Mode of inheritance confirmed on OMIM for LCCS1 (OMIM:253310) and G2P for LAAHD (OMIM:611890).

Created: 16 Dec 2016, 10:25 a.m.

GLE1 is included in the gene panel for Fetal hydrops because there is evidence that lethal congenital contracture syndrome-1 (LCCS1) is caused by mutations in GLE1, and Fetal hydrops is a clinical feature of LCCS1. Note that PMID:16892327 report that LCCS1 is a disorder of the Finnish population.

Created: 10 Oct 2016, 12:39 p.m.

I don't know

Primarily a disorder in people of Finnish extraction with a common severe splicing mutation. Would seem to be rarely seen outside this population. Only the one reference to hydrops.

Created: 22 Nov 2016, 10:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, lethal, with anterior horn cell disease OMIM 611890 as well as LCCS1 OMIM 253310

Publications

• 16892327