Polymicrogyria and Schizencephaly
Gene: GRIN2B
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 6, MIM# 613970
PMID: 28377535 - Neuroimaging was performed in 44 of 58 patients: six unrelated patients (6/44, 14%) showed a consistent MCD intermediate between typical polymicrogyria (PMG) and the cortical appearance of tubulinopathies, consisting of mixed large and small gyri separated by shallow sulci, a smooth grey-white border and little infolding. These patients also had hypoplastic corpus callosum of varying degrees, enlarged and mildly dysplastic basal ganglia, hippocampal dysplasia with thick leaves and open hilus as well as enlarged tecta. One patient had no septum pellucidum. Generalised cerebral volume loss, compatible with cerebral atrophy, was described in four additional patients (4/44; 9%).Created: 21 May 2020, 1:52 a.m. | Last Modified: 21 May 2020, 1:52 a.m.
Panel Version: 0.57
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GRIN2B-related neurodevelopmental disorder
Publications
Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder to GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970
Gene: grin2b has been classified as Green List (High Evidence).
Phenotypes for gene: GRIN2B were changed from to GRIN2B-related neurodevelopmental disorder
Publications for gene: GRIN2B were set to
Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: GRIN2B was added gene: GRIN2B was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GRIN2B was set to Unknown