MCPH1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red MCPH1 in Autism Version 0.15	review	Not set	Sources Expert Review Red SFARI
Green MCPH1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.74	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Other Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes MCPH primary microcephaly Primary Microcephaly, Recessive Microcephaly 1, primary, autosomal recessive, 251200 Microcephaly 1, Primary, Autosomal Recessive
Green MCPH1 in Fetal anomalies Version 0.346	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 1
Green MCPH1 in DDG2P Version 1.148	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 1 251200
Green MCPH1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 2.1098	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 MICROCEPHALY PRIMARY TYPE 1 (MCPH1)

5 panels