Congenital Disorders of Glycosylation
Gene: NGLY1

NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 12 panels

2 reviews

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Neu5Ac1Hex1GlcNAc1-Asn - seen in urine - could be used as screening marker

sommetimes AFP and lactate increased

Disorder of deglycosylation
Created: 23 Nov 2020, 4:41 a.m. | Last Modified: 23 Nov 2020, 4:41 a.m.

Panel Version: 0.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alacrima, movement disorder, microcephaly, abnormal LFT's

Publications

PMID: 29550355

Created: 23 Nov 2020, 4:41 a.m.
Last Modified: 23 Nov 2020, 4:41 a.m.
Panel version: 0.185

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.
Created: 30 Jul 2020, 11:19 p.m. | Last Modified: 30 Jul 2020, 11:19 p.m.

Panel Version: 0.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation, MIM# 615273

Publications

Created: 30 Jul 2020, 11:19 p.m.
Last Modified: 30 Jul 2020, 11:19 p.m.
Panel version: 0.148

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of deglycosylation, MIM# 615273
alacrima, movement disorder, microcephaly, abnormal LFTs

OMIM

610661

Clinvar variants

Variants in NGLY1

Penetrance

None

Publications

Panels with this gene