Macrocephaly_Megalencephaly
Gene: GPRC5BEnsemblGeneIds (GRCh38): ENSG00000167191
EnsemblGeneIds (GRCh37): ENSG00000167191
OMIM: 605948, Gene2Phenotype
GPRC5B is in 5 panels
1 review
Lucy Spencer (Victorian Clinical Genetics Services)
PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits. MRI showed MLC, abnormal and swollen cerebral white matter.
Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: LiteratureCreated: 3 Aug 2023, 2:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
- OMIM
- 605948
- Clinvar variants
- Variants in GPRC5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: gprc5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: gprc5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: gprc5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: gprc5b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lucy Spencer (Victorian Clinical Genetics Services)gene: GPRC5B was added gene: GPRC5B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPRC5B were set to 37143309 Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Review for gene: GPRC5B was set to GREEN