CENPJ

centromere protein J
OMIM: 609279, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CENPJ in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358
Green CENPJ in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358
Red CENPJ in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.545	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358
Green CENPJ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358
Green CENPJ 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 6, primary, autosomal recessive, 608393 (3)
Red CENPJ in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Red Victorian Clinical Genetics Services Phenotypes Seckel syndrome 4 613676
Red CENPJ in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Primary microcephaly
Amber CENPJ in Growth failure Version 1.77	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Seckel syndrome 4, MIM# 613676
Green CENPJ in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393 Seckel syndrome 4, MIM# 613676
Green CENPJ in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 6, primary MIM#608393 Seckel syndrome 4 MIM#613676
Red CENPJ in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary microcephaly
Green CENPJ in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 6, primary MIM#608393 Seckel syndrome 4 MIM#613676