Arthrogryposis
Gene: GLDNEnsemblGeneIds (GRCh38): ENSG00000186417
EnsemblGeneIds (GRCh37): ENSG00000186417
OMIM: 608603, Gene2Phenotype
GLDN is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ten unrelated families reported.Created: 14 Jun 2021, 7:54 a.m. | Last Modified: 14 Jun 2021, 7:54 a.m.
Panel Version: 0.285
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lethal congenital contracture syndrome 11, MIM# 617194
- MONDO:0014965
- OMIM
- 608603
- Clinvar variants
- Variants in GLDN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gldn has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GLDN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLDN was added gene: GLDN was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLDN was set to Unknown