TUBA1A

tubulin alpha 1a
OMIM: 602529, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red TUBA1A in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes lissencephaly and Hirschsprung disease
Red TUBA1A in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Red TUBA1A in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Lissencephaly 3 Lissencephaly, Dominant Cerebral Malformation Disorders Lissencephaly 3, 611603
Green TUBA1A in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Lissencephaly 3 6,1603
Green TUBA1A in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Lissencephaly 3 611603
Green TUBA1A in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Lissencephaly 3 611603
Red TUBA1A in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Cerebral Malformation Disorders Lissencephaly 3 Lissencephaly, Dominant Lissencephaly 3, 611603
Green TUBA1A in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes Lissencephaly 3 6,1603
Green TUBA1A in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY LISSENCEPHALY TYPE 3
Green TUBA1A in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY TYPE 3 611603 INTELLECTUAL DISABILITY
Green TUBA1A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603
Green TUBA1A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 3, 611603 INTELLECTUAL DISABILITY
Green TUBA1A in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 3, 611603
Red TUBA1A in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Lissencephaly 3 611603
Red TUBA1A in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Red London North GLH Phenotypes Lissencephaly 3 611603
Green TUBA1A in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Lissencephaly 3, 611603