Defects of intrinsic and innate immunity
Gene: PLEKHM1EnsemblGeneIds (GRCh38): ENSG00000225190
EnsemblGeneIds (GRCh37): ENSG00000225190
OMIM: 611466, Gene2Phenotype
PLEKHM1 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.Created: 14 May 2021, 6:26 a.m. | Last Modified: 14 May 2021, 6:26 a.m.
Panel Version: 0.75
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal dominant 3 MIM#618107; Osteopetrosis, autosomal recessive 6 MIM#611497
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Osteopetrosis, autosomal recessive 6 MIM#611497
- OMIM
- 611466
- Clinvar variants
- Variants in PLEKHM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: plekhm1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: plekhm1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PLEKHM1 was added gene: PLEKHM1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17404618; 32048120 Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 MIM#611497 Review for gene: PLEKHM1 was set to RED