Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Callosome
Gene: CDK5RAP2

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)

Red List (low evidence)

Corpus callosum abnormalities are not a prominent part of the phenotype (reported in one individual).
Created: 9 Mar 2021, 10:03 a.m. | Last Modified: 9 Mar 2021, 10:03 a.m.

Panel Version: 0.249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 Mar 2021, 10:03 a.m.
Last Modified: 9 Mar 2021, 10:03 a.m.
Panel version: 0.249

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in CDK5RAP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5rap2 has been classified as Red List (Low Evidence).

9 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK5RAP2 were set to

9 Mar 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5rap2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDK5RAP2 was set to Unknown