Leukodystrophy - paediatric
Gene: DENND5BEnsemblGeneIds (GRCh38): ENSG00000170456
EnsemblGeneIds (GRCh37): ENSG00000170456
OMIM: 617279, Gene2Phenotype
DENND5B is in 3 panels
1 review
Chirag Patel (Genetic Health Queensland)
ESHG 2023:
7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)
DD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)
DENND5B acts as:
-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release
-regulator of lipid absorption and homeostasis
Functional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution
Sources: OtherCreated: 24 Jul 2023, 3:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with white matter anomalies
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
- OMIM
- 617279
- Clinvar variants
- Variants in DENND5B
- Penetrance
- None
- Publications
-
- PMID: 38387458
- Panels with this gene
History Filter Activity
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: DENND5B were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dennd5b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: dennd5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: dennd5b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: DENND5B was added gene: DENND5B was added to Leukodystrophy - paediatric. Sources: Other Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies Review for gene: DENND5B was set to GREEN gene: DENND5B was marked as current diagnostic