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Early-onset Parkinson disease

Gene: NHLRC1

Amber List (moderate evidence)
NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Limited reports of parkinsonian features.
Created: 20 Jul 2022, 3:22 a.m. | Last Modified: 20 Jul 2022, 3:22 a.m.
Panel Version: 0.210

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780

Created: 20 Jul 2022, 3:22 a.m.
Last Modified: 20 Jul 2022, 3:22 a.m.
Panel version: 0.210

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 19 Jul 2022, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780

Publications

Created: 19 Jul 2022, 10:51 a.m.

Panel version: 0.189

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
  • Lafora disease
  • Progressive Myoclonic Epilepsy
  • Parkinsonism
OMIM
608072
Clinvar variants
Variants in NHLRC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NHLRC1 were set to PMID: 22425593

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).

20 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NHLRC1 were changed from Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780 to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780; Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).

19 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: NHLRC1 was added gene: NHLRC1 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to PMID: 22425593 Phenotypes for gene: NHLRC1 were set to Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780 Review for gene: NHLRC1 was set to GREEN