CDK5RAP2

CDK5 regulatory subunit associated protein 2
OMIM: 608201, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CDK5RAP2 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	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 3, primary, autosomal recessive, 604804 Microcephaly 3, Primary, Autosomal Recessive
Green CDK5RAP2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Microcephaly 3, primary, autosomal recessive, OMIM:604804 Microcephaly 3, primary, autosomal recessive, MONDO:0011488
Green CDK5RAP2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Green CDK5RAP2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) 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 3, primary, autosomal recessive, 604804 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Amber CDK5RAP2 in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Microcephaly 3, primary, autosomal recessive, OMIM:604804, MONDO:0011488 Tags watchlist
Green CDK5RAP2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 3, primary, autosomal recessive, 604804