Early onset or syndromic epilepsy
Gene: FRMD5
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 5 unrelated cases with seizures plus supportive fly model.Created: 15 Dec 2022, 11:42 a.m. | Last Modified: 15 Dec 2022, 11:42 a.m.
Panel Version: 3.9
Lu et al. 2022 (PMID: 36206744) report 8 unrelated individuals with de novo missense FRMD5 variants who presented with developmental delay (8/8), intellectual disability (7/7), ataxia (7/8), seizures (5/8), and abnormalities of eye movement (8/8). LOF mutant flies exhibited motor impairment, defective responses to light and heat-induced seizures. Fly phenotypes were rescued by expression of the wildtype gene but not by two of the patient missense mutants.
FRMD5 is associated with a relevant phenotype in OMIM (MIM# 620094) but is not yet listed in G2P.
Sources: LiteratureCreated: 15 Dec 2022, 11:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
Publications
Tag Q4_22_promote_green was removed from gene: FRMD5.
Source NHS GMS was added to FRMD5. Source Expert Review Green was added to FRMD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: frmd5 has been classified as Amber List (Moderate Evidence).
gene: FRMD5 was added gene: FRMD5 was added to Genetic epilepsy syndromes. Sources: Literature Q4_22_promote_green tags were added to gene: FRMD5. Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 Review for gene: FRMD5 was set to GREEN