1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. TUBB8
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: TUBB8

Red List (low evidence)
TUBB8 (tubulin beta 8 class VIII)
EnsemblGeneIds (GRCh38): ENSG00000261456
EnsemblGeneIds (GRCh37): ENSG00000173876
OMIM: 616768, Gene2Phenotype
TUBB8 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is with primary infertility rather than POI/POF.
Created: 11 Dec 2020, 4:26 a.m. | Last Modified: 11 Dec 2020, 4:26 a.m.
Panel Version: 0.113

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oocyte maturation defect 2, MIM# 616780

Publications

Created: 11 Dec 2020, 4:26 a.m.
Last Modified: 11 Dec 2020, 4:26 a.m.
Panel version: 0.113

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Oocyte maturation defect 2, MIM# 616780
OMIM
616768
Clinvar variants
Variants in TUBB8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb8 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780

11 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB8 were set to

11 Dec 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: TUBB8 was added gene: TUBB8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: TUBB8 was set to Unknown