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  3. GLDN
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Hydrops fetalis

Gene: GLDN

Amber List (moderate evidence)
GLDN (gliomedin)
EnsemblGeneIds (GRCh38): ENSG00000186417
EnsemblGeneIds (GRCh37): ENSG00000186417
OMIM: 608603, Gene2Phenotype
GLDN is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family identified in PMID 35806855 also presenting with hydrops as a major feature.
Created: 26 Jul 2022, 4:22 a.m. | Last Modified: 26 Jul 2022, 4:22 a.m.
Panel Version: 0.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 11, MIM# 617194

Publications

Created: 26 Jul 2022, 4:22 a.m.
Last Modified: 26 Jul 2022, 4:22 a.m.
Panel version: 0.286

Di Milnes (Genetic Health Queensland)

I don't know

Homozygous pathogenic variant in two of three recurrent NIHF in consanguineous couple (no DNA from the 3rd fetus available - two prior pregnancies and current pregnancy NIHF), segregated in parents
NM_181789.4:c.385_392delTGCAACAG
Sources: Literature
Created: 24 Jul 2022, 11:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 11, MIM# 617194

Publications

Created: 24 Jul 2022, 11:52 p.m.

Panel version: 0.284

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
OMIM
608603
Clinvar variants
Variants in GLDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldn has been classified as Amber List (Moderate Evidence).

26 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldn has been classified as Amber List (Moderate Evidence).

24 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Di Milnes (Genetic Health Queensland)

gene: GLDN was added gene: GLDN was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 34132406 Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194 Review for gene: GLDN was set to AMBER