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Intellectual disability

Gene: CDC40

Red List (low evidence)

CDC40 (cell division cycle 40)
EnsemblGeneIds (GRCh38): ENSG00000168438
EnsemblGeneIds (GRCh37): ENSG00000168438
OMIM: 605585, Gene2Phenotype
CDC40 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. CDC40 currently not associated with any phenotype in OMIM (last edited: 23/08/19) but has a 'possible' disease confidence for 'CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly' in Gene2Phenotype.

Rating Red as currently only a single individual reported in PMID: 33220177 (2021). There is some functional and animal model data to support pathogenicity, so have added 'watchlist' tag. If additional cases arise, CDC40 may also be considered for other panels (e.g. Malformations of cortical development, Genetic epilepsy syndromes, Cytopenia - NOT Fanconi anaemia, etc)
Created: 22 Jan 2021, 11:37 a.m. | Last Modified: 22 Jan 2021, 11:37 a.m.
Panel Version: 3.720

Zornitza Stark (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: 7 Jan 2021, 7:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia; microcephaly; seizures; intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Tags
watchlist
OMIM
605585
Clinvar variants
Variants in CDC40
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: CDC40.

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

22 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures; intellectual disability to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CDC40 was added gene: CDC40 was added to Intellectual disability. 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; intellectual disability Review for gene: CDC40 was set to RED