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 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200
Green MCPH1 in Mendeliome Version 1.2374	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 1.301	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 0.540	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 1.83	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 0.109	review	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	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Microcephaly 1, primary, autosomal recessive
Green MCPH1 in Fetal anomalies Version 1.314	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 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, MIM#251200
Red MCPH1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	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 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3)