Bone Marrow Failure
Gene: POT1EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established telomere disorder with a variety of solid and haematological malignancies reported. The mechanism of disease is loss of function leading to overall telomere lengthening, and resulting in fragile and dysfunctional telomeres.
Sources: Expert listCreated: 14 Nov 2023, 12:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
- OMIM
- 606478
- Clinvar variants
- Variants in POT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pot1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pot1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POT1 was added gene: POT1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to 33119245 Phenotypes for gene: POT1 were set to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related Review for gene: POT1 was set to GREEN gene: POT1 was marked as current diagnostic