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Additional findings_Paediatric

Gene: CDK5RAP2

Green List (high evidence)
CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136861
EnsemblGeneIds (GRCh37): ENSG00000136861
OMIM: 608201, Gene2Phenotype
CDK5RAP2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases.
Created: 9 Mar 2021, 9:59 a.m. | Last Modified: 9 Mar 2021, 9:59 a.m.
Panel Version: 0.196

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488

Publications

Created: 9 Mar 2021, 9:59 a.m.
Last Modified: 9 Mar 2021, 9:59 a.m.
Panel version: 0.196

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, MIM# 604804
  • MONDO:0011488
OMIM
608201
Clinvar variants
Variants in CDK5RAP2
Penetrance
None
Panels with this gene

History Filter Activity

9 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5rap2 has been classified as Green List (High Evidence).

9 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488

9 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5rap2 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive