MCPH1

microcephalin 1
OMIM: 607117, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red MCPH1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200
Green MCPH1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617
Green MCPH1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617
Red MCPH1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617
Green MCPH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617
Green MCPH1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3)
Green MCPH1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephaly 1, primary, autosomal recessive
Green MCPH1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200
Green MCPH1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, MIM#251200
Red MCPH1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200
Green MCPH1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, MIM#251200