Arthrogryposis
Gene: GLDNEnsemblGeneIds (GRCh38): ENSG00000186417
EnsemblGeneIds (GRCh37): ENSG00000186417
OMIM: 608603, Gene2Phenotype
GLDN is in 3 panels
1 review
Alice Gardham (Genomics England)
Mutations identified in 4 familiesCreated: 5 Jan 2017, 11:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 11 617194
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lethal congenital contracture syndrome 11, OMIM:617194
- OMIM
- 608603
- Clinvar variants
- Variants in GLDN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11 617194 to Lethal congenital contracture syndrome 11, OMIM:617194
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GLDN were set to 27616481
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)GLDN was added to Arthrogryposispanel. Sources: Literature
Created
Alice Gardham (Genomics England)GLDN was created by agardham