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  3. TUBB4A
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Leukodystrophy - adult onset

Gene: TUBB4A

Green List (high evidence)
TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset is classically in infancy/early childhood, but later onset reported occasionally.
Created: 20 Jun 2020, 8 a.m. | Last Modified: 20 Jun 2020, 8 a.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 6, MIM# 612438

Publications

Created: 20 Jun 2020, 8 a.m.
Last Modified: 20 Jun 2020, 8 a.m.
Panel version: 0.65

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM#612438
OMIM
602662
Clinvar variants
Variants in TUBB4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb4a has been classified as Green List (High Evidence).

20 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB4A were changed from Leukodystrophy, hypomyelinating, 6, 612438 to Leukodystrophy, hypomyelinating, 6, MIM#612438

20 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB4A were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TUBB4A was added gene: TUBB4A was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438