White matter disorders and cerebral calcification - narrow panel
Gene: TUBB2B
TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Malformations of cortical development
- Cerebellar hypoplasia
- Congenital fibrosis of the extraocular muscles
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cerebral vascular malformations
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TUBB2B was added gene: TUBB2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBB2B was set to Unknown Phenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders