Inflammatory bowel disease
Gene: CARMIL2EnsemblGeneIds (GRCh38): ENSG00000159753
EnsemblGeneIds (GRCh37): ENSG00000159753
OMIM: 610859, Gene2Phenotype
CARMIL2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants in this gene are associated with immunodeficiency. Four individuals from three families reported with early onset IBD. None manifested overt clinical signs of immunodeficiency before their diagnosis.
Sources: Expert ReviewCreated: 20 Sep 2021, 9:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset paediatric inflammatory bowel disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Early onset paediatric inflammatory bowel disease
- OMIM
- 610859
- Clinvar variants
- Variants in CARMIL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: carmil2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: carmil2 has been classified as Green List (High Evidence).
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 Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 33723309 Phenotypes for gene: CARMIL2 were set to Early onset paediatric inflammatory bowel disease Review for gene: CARMIL2 was set to GREEN