TUBA8

tubulin alpha 8
OMIM: 605742, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red TUBA8 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Red TUBA8 in Tubulinopathies Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Amber TUBA8 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Red TUBA8 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Amber TUBA8 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Red TUBA8 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Red TUBA8 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Red TUBA8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Red TUBA8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Red TUBA8 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	Not set	Sources Genomics England PanelApp Expert Review Red Phenotypes Cerebral Malformation Disorders
Red TUBA8 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Polymicrogyria with optic nerve hypoplasia
Red TUBA8 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Red TUBA8 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Red TUBA8 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Polymicrogyria with optic nerve hypoplasia