PLEKHM1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PLEKHM1 in COVID-19 research


Level 2: Viral research
Version 1.116

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


Version 3.2
Latest signed off version: v3.1 (23 Jun 2022)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.2
Latest signed off version: v3.1 (23 Jun 2022)

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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.27
    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