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Severe Paediatric Disorders

Gene: TUBA8

Green List (high evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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, 3:58 a.m. | Last Modified: 2 Mar 2020, 3:58 a.m.
Panel Version: 1.1

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

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TUBA8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, 613180 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TUBA8 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TUBA8.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TUBA8. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TUBA8 was added gene: TUBA8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TUBA8 was set to