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Arthrogryposis

Gene: GLDN

Green List (high evidence)

GLDN (gliomedin)
EnsemblGeneIds (GRCh38): ENSG00000186417
EnsemblGeneIds (GRCh37): ENSG00000186417
OMIM: 608603, Gene2Phenotype
GLDN is in 3 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in 4 families
Created: 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 617194
OMIM
608603
Clinvar variants
Variants in GLDN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

GLDN was added to Arthrogryposispanel. Sources: Literature

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

GLDN was created by agardham