CDK5RAP2

CDK5 regulatory subunit associated protein 2
OMIM: 608201, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CDK5RAP2 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804
Green CDK5RAP2 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Green CDK5RAP2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Red CDK5RAP2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Green CDK5RAP2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Green CDK5RAP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Green CDK5RAP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 3, primary, autosomal recessive, 604804 (3)
Green CDK5RAP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488
Green CDK5RAP2 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Microcephaly 3, primary, autosomal recessive, MONDO:0011488 Microcephaly 3, primary, autosomal recessive, OMIM:604804
Green CDK5RAP2 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 3, primary, autosomal recessive, MIM#604804
Red CDK5RAP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488