Malformations of cortical development
Gene: H3F3AThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Added new-gene-name tag, new approved HGNC gene symbol for H3F3A is H3-3ACreated: 22 Dec 2020, 4:47 p.m. | Last Modified: 22 Dec 2020, 4:47 p.m.
Panel Version: 2.22
Comment on list classification: New gene added as Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)Created: 22 Dec 2020, 4:47 p.m. | Last Modified: 22 Dec 2020, 4:47 p.m.
Panel Version: 2.22
Currently not associated with any phenotype in OMIM, but is listed in Gene2Phenotype with a 'confirmed' disease confidence rating for 'Craniofacial with neurodevelopment disorders'.
- PMID: 31942419 (2019) - De novo missense variant identified by trio exome sequencing in a girl with secondary microcephaly, severe DD and ID, growth retardation and dysmorphic features. Brain MRI demonstrated hypoplasia of corpus callosum and cerebellum as well as thin layer of frontal and parietal periventricular gliosis. No functional analyses of the variant or patient cells were performed.
- PMID: 33268356 (2020) - De novo missense variants identified in 33 unrelated individuals with a shared phenotype of GDD/ID, usually severe and often progressive, with mostly minor congenital anomalies. 23/28 patients showed abnormalities on brain MRI including hypoplasia/agenesis of the corpus collosum (9), cortical atrophy (6) and impaired myelination (5). Variable seizure phenotypes were reported in 17/33 cases, all early-onset where specified, mostly during infancy (latest onset at 14 years of age).
Sources: LiteratureCreated: 22 Dec 2020, 4:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies
Publications
Tag for-review was removed from gene: H3F3A.
Source Expert Review Green was added to H3F3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: h3f3a has been classified as Amber List (Moderate Evidence).
gene: H3F3A was added gene: H3F3A was added to Malformations of cortical development. Sources: Literature new-gene-name, for-review tags were added to gene: H3F3A. Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: H3F3A were set to 31942419; 33268356 Phenotypes for gene: H3F3A were set to Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies Review for gene: H3F3A was set to GREEN