Hereditary Neuropathy - complex
Gene: NGLY1EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with neuropathy a clinical feature in individuals with CDDG1
PMID: 29419975 - LoF is the proposed mechanism of disease however the exact mechanism is not confirmed.
PMID: 22581936
Compound het individual frameshift mutation in last exon from mother and nonsense (R401X) from father
PMID: 27388694
12 individuals from 10 unrelated families
At least 8 individuals showed evidence of axonal sensorimotor polyneuropathy all with mutations in NGLY1.Created: 7 Aug 2023, 4:07 a.m. | Last Modified: 7 Aug 2023, 4:07 a.m.
Panel Version: 0.215
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273)
- Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
- OMIM
- 610661
- Clinvar variants
- Variants in NGLY1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ngly1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NGLY1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NGLY1 was added gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,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, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy