ASPM

abnormal spindle microtubule assembly
OMIM: 605481, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ASPM in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 2.5 Signed off v.2.2 on 25 Feb 2020 Component of the following Super Panels: Cerebral malformations	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephaly 5, primary, autosomal recessive 608716
Red ASPM in Autism Version 0.15	review	Not set	Sources Expert Review Red SFARI
Green ASPM in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.6 Signed off v.2.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Expert list Eligibility statement prior genetic testing Other Phenotypes Microcephaly 5, primary, autosomal recessive MCPH primary microcephaly Primary Microcephaly, Recessive Autosomal recessive primary microcephaly (MCPH) Microcephaly 5, primary, autosomal recessive, 608716 Microcephaly 5, Primary, Autosomal Recessive
Green ASPM in Fetal anomalies Version 1.73 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green ASPM in DDG2P Version 2.8 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Green ASPM in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.82 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 5, primary, autosomal recessive, 608716 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green ASPM in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 5, primary, autosomal recessive, 608716