Malformations of cortical development
Gene: TUBBComment on list classification: Updated rating from Amber to Green following reassessment of evidence as suggested by Helen Brittain, TUBB is a confirmed Gene2Phenotype gene for cortical dysplasia disorder (MIM:615771). Plus 3 unrelated cases from the literature (PMID:23246003).Created: 24 Sep 2018, 9:01 a.m.
In 3 unrelated children of different ethnicities with complex cortical dysplasia with other brain malformations-6 (MIM:615771) and microcephaly, Breuss et al. (2012, PMID:23246003) identified 3 different de novo heterozygous missense variants in the TUBB gene.Created: 24 Sep 2018, 8:59 a.m.
Comment on publications: TUBB is called TUBB5 in some literature (e.g. PMID:23246003).Created: 24 Sep 2018, 8:57 a.m.
Comment when marking as ready: recognised on G2P. Offered on UKGTN. Listed in GeneReviewCreated: 19 Dec 2016, 10:50 a.m.
Mutations reported in three unrelated individuals onlyCreated: 15 Dec 2016, 4:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 6 615771
Publications
Gene: tubb has been classified as Green List (High Evidence).
Publications for gene: TUBB were set to 27010057, 23246003; 30016746
Publications for gene: TUBB were set to 27010057, 23246003
Phenotypes for gene: TUBB were changed from Cortical dysplasia, complex, with other brain malformations 6 to Cortical dysplasia, complex, with other brain malformations 6, 615771
This gene has been classified as Amber List (Moderate Evidence).
Publications for TUBB were set to 27010057, 23246003
This gene has been classified as Amber List (Moderate Evidence).
TUBB was added to Malformations of cortical developmentpanel. Sources: UKGTN
Promoted to Version 1 on 22nd November 2016
TUBB was added to Malformations of cortical developmentpanel. Sources: Other
TUBB was created by sleigh