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  3. TUBA8
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Fetal anomalies

Gene: TUBA8

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Red List (low evidence)

Initially reported in 2 consanguineous Pakistani families with cortical dysplasia (PMID 19896110). Variants reclassified as VUS after mouse knockout model did not support a role in brain development and an alternative variant in SNAP29 was found in original patients as the more likely cause (PMID 28388629). Nil further publications since 2017 linking this gene to disease.
Created: 6 Jan 2022, 12:57 a.m. | Last Modified: 6 Jan 2022, 12:57 a.m.
Panel Version: 0.1866

Mode of inheritance
Unknown

Publications

Created: 6 Jan 2022, 12:57 a.m.
Last Modified: 6 Jan 2022, 12:57 a.m.
Panel version: 0.1866

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported initially. However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous LoF variant in SNAP29, which is much more likely to be causative.
Created: 2 Mar 2020, 3:50 a.m. | Last Modified: 2 Mar 2020, 3:50 a.m.
Panel Version: 0.2344

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180

Publications

Created: 2 Mar 2020, 3:50 a.m.
Last Modified: 2 Mar 2020, 3:50 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2344

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
OMIM
605742
Clinvar variants
Variants in TUBA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 1

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, 613180; POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180

6 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: tuba8 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBA8 was added gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBA8 were set to 28388629; 31481326; 19896110 Phenotypes for gene: TUBA8 were set to Cortical dysplasia, complex, with other brain malformations 8, 613180; POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA