MCPH1

microcephalin 1
OMIM: 607117, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 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 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 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 1.73 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 1
Green MCPH1 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 MICROCEPHALY PRIMARY TYPE 1 251200
Green MCPH1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.79 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 genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 MICROCEPHALY PRIMARY TYPE 1 (MCPH1)
Green MCPH1 in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 1, primary, autosomal recessive, 251200