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  3. TMEM53
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Osteopetrosis

Gene: TMEM53

Green List (high evidence)
TMEM53 (transmembrane protein 53)
EnsemblGeneIds (GRCh38): ENSG00000126106
EnsemblGeneIds (GRCh37): ENSG00000126106
TMEM53 is in 4 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33824347- 4 families with sclerosing bone disorder
Sources: Literature
Created: 1 Feb 2022, 11:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Bone Dysplasia MONDO: 0018230

Publications

Created: 1 Feb 2022, 11:59 p.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Primary Bone Dysplasia MONDO: 0018230
Clinvar variants
Variants in TMEM53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem53 has been classified as Green List (High Evidence).

3 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem53 has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: TMEM53 was added gene: TMEM53 was added to Osteopetrosis. Sources: Literature Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to PMID: 33824347 Phenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230 Review for gene: TMEM53 was set to GREEN