Intellectual disability syndromic and non-syndromic
Gene: NGLY1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation (OMIM 615273)

Publications

Created: 3 Oct 2024, 7:42 a.m.
Last Modified: 3 Oct 2024, 7:42 a.m.
Panel version: 0.6352

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Congenital disorder of deglycosylation-1 (CDDG1) is an autosomal recessive multisystem disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. Other common features include microcephaly, intractable seizures, abnormal eye movements, and evidence of liver dysfunction. Liver biopsy shows cytoplasmic accumulation of storage material in vacuoles. Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.
Created: 3 Oct 2024, 1:31 a.m. | Last Modified: 3 Oct 2024, 1:31 a.m.

Panel Version: 0.6304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PMID: 24651605, 27388694, 32259258

Publications

Congenital disorder of deglycosylation (OMIM 615273)

Created: 3 Oct 2024, 1:31 a.m.
Last Modified: 3 Oct 2024, 1:31 a.m.
Panel version: 0.6304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Congenital disorder of deglycosylation (OMIM 615273)

OMIM

610661

Clinvar variants

Variants in NGLY1

Penetrance

None

Publications

Panels with this gene