1. Panels
  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. GLDN
STRs in panel
Prev Next
Regions in panel
Prev Next

Multiple pterygium syndrome_Fetal akinesia sequence

Gene: GLDN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ten unrelated families reported.
Sources: Expert Review
Created: 14 Jun 2021, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 11, MIM# 617194

Publications

Created: 14 Jun 2021, 7:53 a.m.

Panel version: 0.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldn has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, MIM# 617194 to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldn has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLDN was added gene: GLDN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 27616481; 32812332; 28726266 Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194 Review for gene: GLDN was set to GREEN