CENPJ

centromere protein J
OMIM: 609279, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CENPJ in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • seckel syndrome

Red CENPJ in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 4 613676

Green CENPJ in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.78

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 6, primary, autosomal recessive, 608393
  • ?Seckel syndrome 4, 613676
  • Microcephaly
  • microcephaly primary type 6 (MCPH6), 608393

Green CENPJ in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 6
  • SECKEL SYNDROME TYPE 4

Green CENPJ in DDG2P


Version 1.179

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SECKEL SYNDROME TYPE 4 613676
  • MICROCEPHALY PRIMARY TYPE 6 608393

Red CENPJ in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome

Green CENPJ in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676
  • MICROCEPHALY PRIMARY TYPE 6 (MCPH6)