1. Panels
  2. Disorders of immune dysregulation
  3. CARMIL2
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses; inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Effective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired
Sources: Expert list
Created: 8 Jan 2020, 6:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 58, MIM# 618131

Publications

Created: 8 Jan 2020, 6:42 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 58, MIM# 618131
OMIM
610859
Clinvar variants
Variants in CARMIL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: carmil2 has been classified as Green List (High Evidence).

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: carmil2 has been classified as Green List (High Evidence).

8 Jan 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: CARMIL2 was added gene: CARMIL2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 29479355; 28112205; 27896283 Phenotypes for gene: CARMIL2 were set to Immunodeficiency 58, MIM# 618131 Review for gene: CARMIL2 was set to GREEN