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Mendeliome

Gene: TUBA8

Amber List (moderate evidence)

TUBA8 (tubulin alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 13 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

DISPUTED classification by ClinGen in association with polymicrogyria
https://search.clinicalgenome.org/CCID:006476
Created: 15 Apr 2024, 5:51 a.m. | Last Modified: 15 Apr 2024, 5:51 a.m.
Panel Version: 1.1694

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
polymicrogyria with optic nerve hypoplasia (MONDO:0013172)

Publications

  • https://search.clinicalgenome.org/CCID:006476

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mono-allelic variants and macrothrombocytopaenia: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic.
Created: 27 Apr 2022, 10:50 p.m. | Last Modified: 27 Apr 2022, 10:50 p.m.
Panel Version: 0.13422
Bi-allelic variants and cortical dysplasia: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).
Created: 2 Mar 2020, 4:02 a.m. | Last Modified: 27 Apr 2022, 10:50 p.m.
Panel Version: 0.13422

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
OMIM
605742
Clinvar variants
Variants in TUBA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840

27 Apr 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBA8 were set to 19896110; 31481326; 28388629

27 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba8 has been classified as Amber List (Moderate Evidence).

2 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba8 has been classified as Red List (Low Evidence).

2 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180

2 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBA8 were set to

2 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBA8 was added gene: TUBA8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBA8 was set to Unknown