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Skeletal dysplasia

Gene: PLEKHM1

Red List (low evidence)

PLEKHM1 (pleckstrin homology and RUN domain containing M1)
EnsemblGeneIds (GRCh38): ENSG00000225190
EnsemblGeneIds (GRCh37): ENSG00000225190
OMIM: 611466, Gene2Phenotype
PLEKHM1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.
Created: 25 Apr 2022, 5:08 a.m. | Last Modified: 25 Apr 2022, 5:12 a.m.
Panel Version: 0.13266

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 6 - 611497
  • Osteopetrosis, autosomal recessive 6 611497
  • Osteopetrosis, autosomal dominant 3 - 618107
OMIM
611466
Clinvar variants
Variants in PLEKHM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEKHM1 was added gene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868 Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107