Fetal hydropsGene: 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.
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
Arthrogryposis, lethal, with anterior horn cell disease OMIM 611890 as well as LCCS1 OMIM 253310
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GLE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for GLE1 were set to 3993672; 3344776; 7966188; 16892327
Phenotypes for GLE1 were set to Lethal congenital contracture syndrome 1, 253310; LCCS1; MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE; Arthrogryposis, lethal, with anterior horn cell disease, 611890
GLE1 was created by rfoulger
GLE1 was added to Fetal hydropspanel. Sources: Other