Early onset or syndromic epilepsy
Gene: H3F3A
Agree with prev review to reclassify as green and monoallelic inheritance.Created: 27 Apr 2022, 9:07 a.m. | Last Modified: 27 Apr 2022, 9:07 a.m.
Panel Version: 2.518
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bryant-Li Bhoj neurodevelopmental syndrome 1
Publications
Comment on list classification: Upgraded from Red to Amber, but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag) in view of evidence in recent publication (PMID: 33268356)Created: 22 Dec 2020, 4:37 p.m. | Last Modified: 22 Dec 2020, 4:37 p.m.
Panel Version: 2.240
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: 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).
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Another patient with a similar neurodevelopmental syndrome and a de novo variant in this gene was reported in PMID: 31942419 (2019), however there was no evidence of seizures at age 5.Created: 22 Dec 2020, 4:34 p.m. | Last Modified: 22 Dec 2020, 4:34 p.m.
Panel Version: 2.239
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies
Publications
Added new-gene-name tag, new approved HGNC gene symbol for H3F3A is H3-3ACreated: 6 Sep 2019, 3:43 p.m. | Last Modified: 6 Sep 2019, 3:43 p.m.
Panel Version: 1.263
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
According to panel app not reported in the lit.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
Unknown
Phenotypes
yet to be assigned
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: Based on expert reviewers' commentsCreated: 6 Dec 2018, 2:46 p.m.
There is no published evidence I can find of an association between this gene and epilepsy.Created: 15 Aug 2018, 12:23 a.m.
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)
Phenotypes for gene: H3F3A were changed from to Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies
Publications for gene: H3F3A were set to
Mode of inheritance for gene: H3F3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: H3F3A.
Tag new-gene-name tag was added to gene: H3F3A.
Source Wessex and West Midlands GLH was added to H3F3A.
Source NHS GMS was added to H3F3A.
Zornitza Stark: There is no published evidence
Gene: h3f3a has been classified as Red List (Low Evidence).
Gene: h3f3a has been classified as Red List (Low Evidence).
Expert Review Amber was added to H3F3A. Panel: Genetic Epilepsy Syndromes
H3F3A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
H3F3A was created by Sarah Leigh