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COVID-19 research

Gene: CARMIL2

Green List (high evidence)

CARMIL2 (capping protein regulator and myosin 1 linker 2)
EnsemblGeneIds (GRCh38): ENSG00000159753
EnsemblGeneIds (GRCh37): ENSG00000159753
OMIM: 610859, Gene2Phenotype
CARMIL2 is in 3 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency; EBV+ disseminated smooth muscle tumours

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PMID 27896283 reports 4 Norwegian cases from three families who had the same variant (p.Leu639His) together together with a shared haplotype.
Created: 9 May 2018, 3:34 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RLTPR .PanelApp HGNC gene symbol check: CARMIL2 . IUIS Disease: RLTPR (CARMIL2) deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 12 Jun 2018, 10:48 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 12 Jun 2018, 10:48 a.m.
removed founder tag- different variants (and consequences) have been found in other populations not just of Norwegian origin. PMID:27647349 and 28112205
Created: 12 Jun 2018, 10:46 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support there are more than three unrelated families with combined immunodeficiency; EBV+ disseminated smooth muscle tumours
Created: 12 Jun 2018, 10:41 a.m.
previous HGNC gene symbol for CARMIL2 was RLTPR
Created: 12 Jun 2018, 10:26 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RLTPR, PanelApp HGNC gene symbol check: CARMIL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • warts, molluscum contagiosum, and T cell dysfunction
  • Combined immunodeficiency
  • Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
  • Diseases of Immune Dysregulation
  • EBV+ disseminated smooth muscle tumours
OMIM
610859
Clinvar variants
Variants in CARMIL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: CARMIL2 was added gene: CARMIL2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 27647349; 27896283; 28112205 Phenotypes for gene: CARMIL2 were set to warts, molluscum contagiosum, and T cell dysfunction; Combined immunodeficiency; Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy; Diseases of Immune Dysregulation; EBV+ disseminated smooth muscle tumours