Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Early onset or syndromic epilepsy v9.87 SLC12A5 Ida Ertmanska Tag Q3_26_expert_review was removed from gene: SLC12A5.
Early onset or syndromic epilepsy v9.87 SLC12A5 Achchuthan Shanmugasundram Phenotypes for gene: SLC12A5 were changed from epilepsy of infancy with migrating focal seizures (EIMFS); Epileptic encephalopathy, early infantile, 34, 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 to {Epilepsy, idiopathic generalized, susceptibility to, 14}, OMIM:616685; Developmental and epileptic encephalopathy 34, OMIM:616645
Early onset or syndromic epilepsy v9.86 SLC12A5 Achchuthan Shanmugasundram Publications for gene: SLC12A5 were set to 26333769; 24668262; 27436767
Early onset or syndromic epilepsy v9.84 SLC12A5 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only. An expert_review rating was added to ensure GMS agreement on this change.; to: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only.
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: SLC12A5.
Tag Q3_26_MOI tag was added to gene: SLC12A5.
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only. An expert_review rating was added to ensure agreement on this change.; to: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only. An expert_review rating was added to ensure GMS agreement on this change.
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only.; to: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only. An expert_review rating was added to ensure agreement on this change.
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska commented on gene: SLC12A5: Comment on mode of inheritance: There are 4 individuals reported in literature with heterozygous SLC12A5 variants and generalised epilepsy. However, two of them harboured a common p.Arg952His variant; the other two variants also had multiple hets reported in gnomAD. Monoallelic variants are more likely to confer a susceptibility - there is little evidence for a dominant Mendelian disorder. Hence, the mode of inheritance should be changed to BIALLELIC only.
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska changed review comment from: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has MAF = 0.0001537 in gnomAD v4 and no homozygotes.

PMID: 31104500 Till et al., 2019
Male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy. WES detected a het SLC12A5:c.1348G>A, p.Val450Ile variant. 15 hets reported in gnomAD v4. [Article mostly in Hungarian]

SLC12A5 is robustly associated with AR Developmental and epileptic encephalopathy, with many patients reported in literature harbouring biallelic variants and their het parents being unaffected. Additional recessive case reports:
PMID: 28477354 Saito et al., 2017 - proband with comp het variants in SLC12A5 - maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5
PMID: 38660387 Järvelä et al., 2024 - proband homozygous for SLC12A5 c.692G>A, p.(R231H)
PMID: 42033187 Hamze et al., 2026 - 2 probands with unique comp het SLC12A5 variants (3 missense and 1 splice variant); to: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has 33 hets and MAF = 0.0001537 in gnomAD v4, no homozygotes.

PMID: 31104500 Till et al., 2019
Male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy. WES detected a het SLC12A5:c.1348G>A, p.Val450Ile variant. 15 hets reported in gnomAD v4. [Article mostly in Hungarian]

SLC12A5 is robustly associated with AR Developmental and epileptic encephalopathy, with many patients reported in literature harbouring biallelic variants and their het parents being unaffected. Additional recessive case reports:
PMID: 28477354 Saito et al., 2017 - proband with comp het variants in SLC12A5 - maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5
PMID: 38660387 Järvelä et al., 2024 - proband homozygous for SLC12A5 c.692G>A, p.(R231H)
PMID: 42033187 Hamze et al., 2026 - 2 probands with unique comp het SLC12A5 variants (3 missense and 1 splice variant)
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska changed review comment from: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has MAF = 0.0001537 in gnomAD v4 and no homozygotes.

SLC12A5 is robustly associated with AR Developmental and epileptic encephalopathy, with many patients reported in literature harbouring biallelic variants and their het parents being unaffected. Additional recessive case reports:
PMID: 28477354 Saito et al., 2017 - proband with comp het variants in SLC12A5 - maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5
PMID: 38660387 Järvelä et al., 2024 - proband homozygous for SLC12A5 c.692G>A, p.(R231H)
PMID: 42033187 Hamze et al., 2026 - 2 probands with unique comp het SLC12A5 variants (3 missense and 1 splice variant); to: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has MAF = 0.0001537 in gnomAD v4 and no homozygotes.

PMID: 31104500 Till et al., 2019
Male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy. WES detected a het SLC12A5:c.1348G>A, p.Val450Ile variant. 15 hets reported in gnomAD v4. [Article mostly in Hungarian]

SLC12A5 is robustly associated with AR Developmental and epileptic encephalopathy, with many patients reported in literature harbouring biallelic variants and their het parents being unaffected. Additional recessive case reports:
PMID: 28477354 Saito et al., 2017 - proband with comp het variants in SLC12A5 - maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5
PMID: 38660387 Järvelä et al., 2024 - proband homozygous for SLC12A5 c.692G>A, p.(R231H)
PMID: 42033187 Hamze et al., 2026 - 2 probands with unique comp het SLC12A5 variants (3 missense and 1 splice variant)
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska edited their review of gene: SLC12A5: Changed publications to: 24668262, 24928908, 28477354, 38660387, 42033187
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska changed review comment from: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has MAF = 0.0001537 in gnomAD v4 and no homozygotes.; to: MONOALLELIC REPORTS:
PMID: 24668262 Puskarjov et al., 2014
Study analyzed 378 (266 unrelated) patients with seizure disorders.
Variant NM_020708.4: c.2855G>A, p.Arg952His was reported in a large Australian pedigree with febrile seizures and noted to segregate with disease. However, the variant is common in gnomAD v4 (MAF = 0.01873, 42 hmz reported).

PMID: 24928908 Kahle et al., 2014
Idiopathic generalized epilepsy cohort. Variants c.2855G>A (p.R952H) and c.3145 C>T (p.R1049C) in SLC12A5 were reported. R952H is called a 'susceptibility' variant for febrile seizures in the article.
Variant p.R1049C has MAF = 0.0001537 in gnomAD v4 and no homozygotes.

SLC12A5 is robustly associated with AR Developmental and epileptic encephalopathy, with many patients reported in literature harbouring biallelic variants and their het parents being unaffected. Additional recessive case reports:
PMID: 28477354 Saito et al., 2017 - proband with comp het variants in SLC12A5 - maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5
PMID: 38660387 Järvelä et al., 2024 - proband homozygous for SLC12A5 c.692G>A, p.(R231H)
PMID: 42033187 Hamze et al., 2026 - 2 probands with unique comp het SLC12A5 variants (3 missense and 1 splice variant)
Early onset or syndromic epilepsy v9.81 SLC12A5 Ida Ertmanska reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24668262, 24928908; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 14}, OMIM:616685, Developmental and epileptic encephalopathy 34, OMIM:616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Marked gene: SLC12A5 as ready
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Gene: slc12a5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Phenotypes for gene: SLC12A5 were changed from epilepsy of infancy with migrating focal seizures (EIMFS) to epilepsy of infancy with migrating focal seizures (EIMFS); Epileptic encephalopathy, early infantile, 34, 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
Early onset or syndromic epilepsy v1.290 SLC12A5 Rebecca Foulger Publications for gene: SLC12A5 were set to PMID: 26333769; 24668262
Early onset or syndromic epilepsy v1.289 SLC12A5 Rebecca Foulger Mode of inheritance for gene: SLC12A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.288 SLC12A5 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'BOTH monoallelic and bialleic, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.288 SLC12A5 Rebecca Foulger Mode of inheritance for gene: SLC12A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 SLC12A5 Rebecca Foulger commented on gene: SLC12A5: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.261 SLC12A5 Helen Lord reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 SLC12A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC12A5.
Early onset or syndromic epilepsy v1.190 SLC12A5 Rebecca Foulger Source NHS GMS was added to SLC12A5.
Early onset or syndromic epilepsy v1.189 SLC12A5 Rebecca Foulger reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC12A5 Tracy Lester reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333769, 27436767 ; Phenotypes: Epileptic encephalopathy, early infantile, 616645, {Epilepsy, idiopathic generalized, susceptibility to}, 616685 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy SLC12A5 Sarah Leigh Added gene to panel