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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

Karina Sandoval (Victorian Clinical Genetics Services)

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.

Well established gene-disease association.

Congenital onset, ID, microcephaly and congenital anomalies.

No specific treatment available
Created: 11 Dec 2024, 12:44 a.m. | Last Modified: 11 Dec 2024, 12:44 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Dec 2024, 12:44 a.m.
Last Modified: 11 Dec 2024, 12:44 a.m.
Panel version: 1.633

History Filter Activity

13 Dec 2024, 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).

13 Dec 2024, 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, 604804 (3) to Microcephaly 3, primary, autosomal recessive, MIM#604804

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK5RAP2 were set to

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 604804 (3)