Combined Immunodeficiency
Gene: PRIM1EnsemblGeneIds (GRCh38): ENSG00000198056
EnsemblGeneIds (GRCh37): ENSG00000198056
OMIM: 176635, Gene2Phenotype
PRIM1 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
8 cases from 6 families with combined immunodeficiency a feature of the condition. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert listCreated: 10 Nov 2024, 4:23 a.m. | Last Modified: 10 Nov 2024, 4:24 a.m.
Panel Version: 1.86
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
- OMIM
- 176635
- Clinvar variants
- Variants in PRIM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prim1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prim1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRIM1 was added gene: PRIM1 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134; 38773012 Phenotypes for gene: PRIM1 were set to primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276 Review for gene: PRIM1 was set to GREEN