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Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PLA2G6.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Changed rating: GREEN
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh commented on gene: PLA2G6: Sixteen cases of PLA2G6-associated neurodegeneration (PLAN) were examined in PMID: 30340910. Seizures were evident in 5/10 cases with infantile PLAN and in 3/6 cases with childhood PLAN. A total of nine PLA2G6 variants were associated with a phenotype that included seizures.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Classified gene: PLA2G6 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.119 PLA2G6 Sarah Leigh Added comment: Comment on phenotypes: PLA2G6-associated neurodegeneration (PLAN)
Early onset or syndromic epilepsy v4.119 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from PLA2G6-associated neurodegeneration (PLAN); Familial cortical myoclonic tremor with epilepsy (FCMTE); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 to Infantile neuroaxonal dystrophy 1, OMIM:256600; neurodegeneration with brain iron accumulation 2A, MONDO:0024457; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; neurodegeneration with brain iron accumulation 2B, MONDO:0012444; Parkinson disease 14, autosomal recessive, OMIM:612953; autosomal recessive Parkinson disease 14, MONDO:0013060
Early onset or syndromic epilepsy v4.118 PLA2G6 Sarah Leigh Tag watchlist_moi tag was added to gene: PLA2G6.
Early onset or syndromic epilepsy v1.403 PLA2G6 Rebecca Foulger Classified gene: PLA2G6 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.403 PLA2G6 Rebecca Foulger Added comment: Comment on list classification: Although PLA2G6 is Green on the 'Inborn errors of metabolism' panel, have added to the Epilepsy panel as Amber as unclear if seizures are a consistent feature. Requires clinical review (and review of the MOI in PMID:27513994) before promotion to Green.
Early onset or syndromic epilepsy v1.403 PLA2G6 Rebecca Foulger Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.402 PLA2G6 Rebecca Foulger Added comment: Comment on mode of inheritance: Selected 'BIALLELIC' inheritance to match the metabolism PanelApp panels (including Inborn errors of metabolism, V1.392), all OMIM disorders and both G2P disorders. However, PMID:27513994 report autosomal dominant inheritance for Familial cortical myoclonic tremor with epilepsy (FCMTE).
Early onset or syndromic epilepsy v1.402 PLA2G6 Rebecca Foulger Mode of inheritance for gene: PLA2G6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.401 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: PMID:27513994 (Gao et al., 2016) report a family (41 members) which included 6 individuals affected with Familial cortical myoclonic tremor with epilepsy (FCMTE). All 6 individuals had tremors while 5 individuals had seizures. Genomic sequencing was performed on 3 affected and 2 unaffected individuals. A novel missense variant c.475C>T (p.A159T) in PLA2G6 with AD inheritance was identified in this family which segregated with the disease. Note that a variant in SNRNP200 gene also segregated with the disease but is within the untranslated region and the functional effect is unclear.
Early onset or syndromic epilepsy v1.401 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: PMID:30772976. Ma et al., 2019 analyse a Chinese Han pedigree with seizures amongst the phenotype. Compound het variants in PLA2G6 were found (p.A80T and p.D331Y) (full English text not available).
Early onset or syndromic epilepsy v1.401 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: PMID:30340910. Darling et al., 2019 investigated 16 patients from 13 families with PLA2G6-associated neurodegeneration (an autosomal recessive disorder). Epilepsy was observed in 8/16 patients (7 families, 2 patients had been previously reported, Table 1). All patients harboured missense, nonsense and frameshift variants in PLA2G6.
Early onset or syndromic epilepsy v1.401 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Genetic epilepsy syndromes. Sources: Literature,Other
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 30340910; 27513994; 30772976
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration (PLAN); Familial cortical myoclonic tremor with epilepsy (FCMTE); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217
Added comment: Added to epilepsy panel based on a Green rating on the 'Inborn errors of metabolism panel'- seizures are a reported feature of MIM:256600 and MIM:610217.
Sources: Literature, Other