TUBA8

tubulin alpha 8
OMIM: 605742, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red TUBA8 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Red Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags disputed
Red TUBA8 in Tubulinopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Red Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags disputed
Amber TUBA8 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Red TUBA8 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags disputed
Red TUBA8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Red Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Red TUBA8 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Red Phenotypes Polymicrogyria with optic nerve hypoplasia MONDO:0013172