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  3. CDC40
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Cerebellar and Pontocerebellar Hypoplasia

Gene: CDC40

Red List (low evidence)
CDC40 (cell division cycle 40)
EnsemblGeneIds (GRCh38): ENSG00000168438
EnsemblGeneIds (GRCh37): ENSG00000168438
OMIM: 605585, Gene2Phenotype
CDC40 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.

Gene referred to as PRP17 in paper.

Sources: Literature
Created: 10 Dec 2020, 5:20 a.m. | Last Modified: 10 Dec 2020, 5:22 a.m.
Panel Version: 0.161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures

Publications

Created: 10 Dec 2020, 5:20 a.m.
Last Modified: 10 Dec 2020, 5:22 a.m.
Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 15, MIM# 619302
  • microcephaly
  • seizures
OMIM
605585
Clinvar variants
Variants in CDC40
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures

10 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdc40 has been classified as Red List (Low Evidence).

10 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: CDC40 was added gene: CDC40 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures Review for gene: CDC40 was set to GREEN