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Intellectual disability syndromic and non-syndromic

Gene: NHLRC1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Progressive neurodegenerative condition rather than ID.
Created: 7 Dec 2019, 8:22 p.m. | Last Modified: 7 Dec 2019, 8:22 p.m.
Panel Version: 0.867

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhlrc1 has been classified as Red List (Low Evidence).

7 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780

7 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhlrc1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHLRC1 was added gene: NHLRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHLRC1 was set to Unknown