CENPJ

centromere protein J
OMIM: 609279, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CENPJ in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes seckel syndrome Tags new-gene-name
Red CENPJ in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Seckel syndrome 4 613676 Tags new-gene-name
Green CENPJ in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	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 Tags new-gene-name
Green CENPJ in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 6 SECKEL SYNDROME TYPE 4 Tags new-gene-name
Green CENPJ in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SECKEL SYNDROME TYPE 4 613676 MICROCEPHALY PRIMARY TYPE 6 608393 Tags new-gene-name
Green CENPJ in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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) Tags new-gene-name
Red CENPJ in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes seckel syndrome Tags new-gene-name