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Prepair 1000+

Gene: NGLY1

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association: strong. 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.

Severity: severe

Age of onset: congenital
Created: 29 Jul 2024, 7:22 a.m. | Last Modified: 29 Jul 2024, 7:22 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation, MIM# 615273

Publications

Created: 29 Jul 2024, 7:22 a.m.
Last Modified: 29 Jul 2024, 7:22 a.m.
Panel version: 1.65

History Filter Activity

14 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ngly1 has been classified as Green List (High Evidence).

14 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: NGLY1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Congenital disorder of deglycosylation, 615273 (3) for gene: NGLY1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NGLY1 was added gene: NGLY1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)