1. Panels
  2. GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
  3. FBLIM1
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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: FBLIM1

Green List (high evidence)
FBLIM1 (filamin binding LIM protein 1)
EnsemblGeneIds (GRCh38): ENSG00000162458
EnsemblGeneIds (GRCh37): ENSG00000162458
OMIM: 607747, Gene2Phenotype
FBLIM1 is in 1 panel

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: FBLIM1; 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: 259680; PMID(s): 28301468; Comment: PanelApp panel name indicated if gene already present in Panelapp: none submitted
Created: 27 Feb 2019, 3:14 p.m.
Created: 27 Feb 2019, 3:14 p.m.

Panel version: 0.6

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

Created: 27 Feb 2019, 2:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • 259680
OMIM
607747
Clinvar variants
Variants in FBLIM1
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 FBLIM1. Mode of inheritance for gene FBLIM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 259680 for gene: FBLIM1 Publications for gene FBLIM1 were changed from to 28301468 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 FBLIM1.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FBLIM1 was added gene: FBLIM1 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: FBLIM1 was set to