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  2. Anophthalmia_Microphthalmia_Coloboma
  3. CDK5RAP2
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Anophthalmia_Microphthalmia_Coloboma

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)

Microphthalmia is a feature.
Sources: Literature
Created: 28 Dec 2020, 7:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 3, primary, autosomal recessive, MIM# 604804

Publications

Created: 28 Dec 2020, 7:54 a.m.

Panel version: 0.164

Details

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

History Filter Activity

28 Dec 2020, 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).

28 Dec 2020, 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).

28 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5RAP2 were set to 32015000 Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804 Review for gene: CDK5RAP2 was set to GREEN