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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: NLRP7

Green List (high evidence)

NLRP7 (NLR family pyrin domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000167634
EnsemblGeneIds (GRCh37): ENSG00000167634
OMIM: 609661, Gene2Phenotype
NLRP7 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: NLRP7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231090; PMID(s): 19246479;19650864;22909446 ; Comment: PanelApp panel name indicated if gene already present in Panelapp: none submitted
Created: 27 Feb 2019, 3:14 p.m.

Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)

Green List (high evidence)

Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.
Created: 27 Feb 2019, 2:22 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • 231090
OMIM
609661
Clinvar variants
Variants in NLRP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NLRP7. Mode of inheritance for gene NLRP7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 231090 for gene: NLRP7 Publications for gene NLRP7 were changed from to 22909446; 19246479; 19650864 Rating Changed from Red List (low evidence) to Green List (high evidence)

27 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NLRP7.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NLRP7 was added gene: NLRP7 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: NLRP7 was set to