Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: NHLRC2

Green List (high evidence)

NHLRC2 (NHL repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196865
EnsemblGeneIds (GRCh37): ENSG00000196865
NHLRC2 is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Created: 2 Nov 2020, 4:48 a.m. | Last Modified: 2 Nov 2020, 4:52 a.m.
Panel Version: 0.5248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Clinvar variants
Variants in NHLRC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhlrc2 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NHLRC2 were changed from to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278

2 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NHLRC2 were set to

2 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NHLRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHLRC2 was added gene: NHLRC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NHLRC2 was set to Unknown