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Osteopetrosis

Gene: PLEKHM1

Amber List (moderate evidence)
PLEKHM1 (pleckstrin homology and RUN domain containing M1)
EnsemblGeneIds (GRCh38): ENSG00000225190
EnsemblGeneIds (GRCh37): ENSG00000225190
OMIM: 611466, Gene2Phenotype
PLEKHM1 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This rating change from Green to Amber has been suggested by the GMS specialist disease group experts (email 16/09/20200). They have not found PLEKHM1 variants in 257 diagnostic and familial cases listed in the OP database.
Published reports include three variants in two cases of biallelic osteopetrosis (PMID 17404618;28290981) and three monoallelic variants in three unrelated cases (PMID 17997709;27291868), however, in one of these cases the unaffected mother of the proband also carried the PLEKHM1 variant, possibly raising the issue of penetrance (PMID 21054159). A further variant was also identified by RNA-seq analysis of Xanthogranulomatous epithelial tumour in a patient with osteopetrosis, however, the zygosity of this variant was not reported (PMID 32415263).
Created: 17 Sep 2020, 1:03 p.m. | Last Modified: 21 Sep 2020, 10:54 a.m.
Panel Version: 0.10
Created: 17 Sep 2020, 1:03 p.m.
Last Modified: 21 Sep 2020, 10:54 a.m.
Panel version: 0.9

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
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
OMIM
611466
Clinvar variants
Variants in PLEKHM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107 to ?Osteopetrosis, autosomal recessive 6 OMIM:611497; Osteopetrosis, autosomal dominant 3 OMIM:618107

17 Sep 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: PLEKHM1.

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: plekhm1 has been classified as Amber List (Moderate Evidence).

17 Sep 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PLEKHM1 were set to

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: PLEKHM1 was added gene: PLEKHM1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107