PLEKHM1

pleckstrin homology and RUN domain containing M1
OMIM: 611466, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PLEKHM1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Osteopetrosis Defects in intrinsic and innate immunity Defects in Intrinsic and Innate Immunity
Red PLEKHM1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 Expert Review Red IUIS Classification February 2018 Phenotypes Osteopetrosis Defects in Intrinsic and Innate Immunity Defects in intrinsic and innate immunity
Amber PLEKHM1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal recessive 6 611497 Osteopetrosis, autosomal dominant 3 - 618107 Tags watchlist
Amber PLEKHM1 in Osteopetrosis Level 2: Musculoskeletal Version 1.38 Latest signed off version: v1.1 (21 Sep 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Osteopetrosis, autosomal recessive 6 OMIM:611497 Osteopetrosis, autosomal dominant 3 OMIM:618107 Tags watchlist