Brain Calcification
Gene: DENND5AEnsemblGeneIds (GRCh38): ENSG00000184014
EnsemblGeneIds (GRCh37): ENSG00000184014
OMIM: 617278, Gene2Phenotype
DENND5A is in 8 panels
1 review
Yetong Chen (University of Melbourne)
Limited evidence supports a causal role of the DENND5A gene in brain calcification.
PMID 27866705 reports that 3 individuals with DENND5A variants, who were from 2 families, developed brain calcification. Co-segregation of the DENND5A variant and pathogenic phenotype is confirmed by sequencing their parents and unaffected sibs.
Sources: Expert listCreated: 30 Mar 2023, 4:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 49, MIM# 617281
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Developmental and epileptic encephalopathy 49, MIM# 617281
- OMIM
- 617278
- Clinvar variants
- Variants in DENND5A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dennd5a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dennd5a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: DENND5A was added gene: DENND5A was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DENND5A were set to 32734340; 27866705 Phenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy 49, MIM# 617281 Review for gene: DENND5A was set to RED