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  3. PLEKHM1
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Osteopetrosis

Gene: PLEKHM1

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

2 reviews

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, 5:17 a.m. | Last Modified: 25 Apr 2022, 5:17 a.m.
Panel Version: 0.21

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497

Publications

Created: 25 Apr 2022, 5:11 a.m.
Last Modified: 25 Apr 2022, 5:11 a.m.
Panel version: 0.21

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models
Created: 14 May 2021, 6:23 a.m. | Last Modified: 14 May 2021, 6:23 a.m.
Panel Version: 0.7

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal dominant 3 MIM#618107

Publications

Created: 14 May 2021, 6:23 a.m.
Last Modified: 14 May 2021, 6:23 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal dominant 3, MIM# 618107
  • Osteopetrosis, autosomal recessive 6 , MIM# 611497
OMIM
611466
Clinvar variants
Variants in PLEKHM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLEKHM1 were set to

25 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLEKHM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plekhm1 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEKHM1 was added gene: PLEKHM1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLEKHM1 was set to Unknown