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Mendeliome

Gene: NLRP5

Green List (high evidence)

NLRP5 (NLR family pyrin domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000171487
EnsemblGeneIds (GRCh37): ENSG00000171487
OMIM: 609658, Gene2Phenotype
NLRP5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

'Maternal effect gene'
Part of the subcortical maternal complex

Report of five mothers carrying either monoallelic or biallelic variants in NLRP5, who had both unaffected offspring and offspring with BWS-MLID (Doherty 2015). Report of one family where the mother carried biallelic variants in NLRP5, had one offspring with BWS, one unaffected offspring and multiple miscarriages (Sparago 2019).

Reports of at least three unrelated individuals with recurrent early embryonic arrest carrying biallelic variants in NLRP5. Functional work suggesting protein degradation in affected human cell lines (Mu 2019, Xu 2020).
Created: 13 Oct 2021, 3 a.m. | Last Modified: 13 Oct 2021, 3 a.m.
Panel Version: 0.9366
At least two families reported.
Sources: Literature
Created: 1 Jul 2020, 10:19 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Early embryonic arrest; Multi locus imprinting disturbance in offspring

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early embryonic arrest
  • Multi locus imprinting disturbance in offspring
OMIM
609658
Clinvar variants
Variants in NLRP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLRP5 were changed from Early embryonic arrest to Early embryonic arrest; Multi locus imprinting disturbance in offspring

13 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238

13 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NLRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp5 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp5 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp5 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLRP5 was added gene: NLRP5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NLRP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238 Phenotypes for gene: NLRP5 were set to Early embryonic arrest Review for gene: NLRP5 was set to AMBER