TUBA8

tubulin alpha 8
OMIM: 605742, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red TUBA8 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Red TUBA8 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	Unknown	Sources Expert Review Red Phenotypes Cerebral Malformation Disorders
Amber TUBA8 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180
Amber TUBA8 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polymicrogyria with optic nerve hypoplasia 613180 Tags watchlist
Red TUBA8 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	Not set	Sources UKGTN Phenotypes Cerebral Malformation Disorders
Amber TUBA8 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags watchlist
Amber TUBA8 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
Amber TUBA8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Cortical dysplasia, complex, with other brain malformations 8, 613180
Red TUBA8 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180
Amber TUBA8 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 seizures Tags watchlist
Red TUBA8 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA (PMGONH) Tags watchlist
Red TUBA8 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 8, 613180
Red TUBA8 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH