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  3. TUBB4A
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Hereditary Spastic Paraplegia - paediatric

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)

Complex neurological disorder with childhood onset, spasticity is a feature.
Sources: Expert list
Created: 12 Jun 2020, 1:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 6, MIM# 612438

Publications

Created: 12 Jun 2020, 1:24 a.m.

Panel version: 0.100

History Filter Activity

12 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).

12 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).

12 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB4A was added gene: TUBB4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4A were set to 23582646; 24850488 Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, MIM# 612438 Review for gene: TUBB4A was set to GREEN