Polymicrogyria and Schizencephaly
Gene: DEPDC5EnsemblGeneIds (GRCh38): ENSG00000100150
EnsemblGeneIds (GRCh37): ENSG00000100150
OMIM: 614191, Gene2Phenotype
DEPDC5 is in 6 panels
1 review
Dean Phelan (Victorian Clinical Genetics Services)
PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway.
PMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy.
Sources: LiteratureCreated: 6 Oct 2022, 4:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
- OMIM
- 614191
- Clinvar variants
- Variants in DEPDC5
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: depdc5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: depdc5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Dean Phelan (Victorian Clinical Genetics Services)gene: DEPDC5 was added gene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEPDC5 were set to PMID: 36067010; 32848577 Phenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 Mode of pathogenicity for gene: DEPDC5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: DEPDC5 was set to GREEN