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Mendeliome

Gene: TACC3

Amber List (moderate evidence)

TACC3 (transforming acidic coiled-coil containing protein 3)
EnsemblGeneIds (GRCh38): ENSG00000013810
EnsemblGeneIds (GRCh37): ENSG00000013810
OMIM: 605303, Gene2Phenotype
TACC3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility.
Sources: Expert list
Created: 29 Jul 2025, 5:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Female infertility due to oocyte meiotic arrest, MONDO:0044626

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Female infertility due to oocyte meiotic arrest, MONDO:0044626
OMIM
605303
Clinvar variants
Variants in TACC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tacc3 has been classified as Amber List (Moderate Evidence).

29 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tacc3 has been classified as Amber List (Moderate Evidence).

29 Jul 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TACC3 was added gene: TACC3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: TACC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACC3 were set to 36395215 Phenotypes for gene: TACC3 were set to Female infertility due to oocyte meiotic arrest, MONDO:0044626 Review for gene: TACC3 was set to AMBER