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BabyScreen+ newborn screening

Gene: NGLY1

Red List (low evidence)
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)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation, MIM# 615273

Created: 6 Oct 2022, 2:40 a.m.
Last Modified: 6 Oct 2022, 2:40 a.m.
Panel version: 0.434

David Amor (Murdoch Children's Research Institute)

Red List (low 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

Non-molecular confirmatory testing: no (transferrin isoforms normal)

Treatment: symptomatic only therefore exclude
Created: 5 Oct 2022, 12:04 a.m. | Last Modified: 5 Oct 2022, 12:04 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation)

Created: 5 Oct 2022, 12:04 a.m.
Last Modified: 5 Oct 2022, 12:04 a.m.
Panel version: 0.274

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ngly1 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NGLY1 were changed from Developmental delay, multifocal epilepsy & abnormal liver function to Congenital disorder of deglycosylation, MIM# 615273

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ngly1 has been classified as Red List (Low Evidence).

18 Sep 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function