Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Macrocephaly_Megalencephaly v0.127 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.127 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.125 GPRC5B Lucy Spencer 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
Added comment: 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: Literature