Activity
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| Likely inborn error of metabolism v9.4 | SLC52A3 | Ida Ertmanska Tag treatable tag was added to gene: SLC52A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.4 | SLC52A3 | Ida Ertmanska commented on gene: SLC52A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.104 | SLC52A3 | Achchuthan Shanmugasundram commented on gene: SLC52A3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.104 | SLC52A3 | Achchuthan Shanmugasundram Mode of inheritance for gene: SLC52A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.103 | SLC52A3 | Achchuthan Shanmugasundram Tag Q1_26_MOI was removed from gene: SLC52A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.103 | SLC52A3 |
Achchuthan Shanmugasundram changed review comment from: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Variant in only one allele was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with adult-onset Brown-Vialetto-van Laere syndrome and with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state.; to: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Variant in only one allele was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with adult-onset Brown-Vialetto-van Laere syndrome and with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state. |
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| Likely inborn error of metabolism v8.103 | SLC52A3 |
Achchuthan Shanmugasundram changed review comment from: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Only one variant was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with adult-onset Brown-Vialetto-van Laere syndrome and with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state.; to: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Variant in only one allele was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with adult-onset Brown-Vialetto-van Laere syndrome and with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state. |
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| Likely inborn error of metabolism v8.103 | SLC52A3 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is evidence available for the association of both monoallelic and biallelic variants in this gene to riboflavin transporter deficiency. The MOI of this gene has already been set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SLC52A3/). Hence, the MOI should be updated to BOTH on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.103 | SLC52A3 | Achchuthan Shanmugasundram Mode of inheritance for gene: SLC52A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.102 | SLC52A3 | Achchuthan Shanmugasundram Tag Q1_26_MOI tag was added to gene: SLC52A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.102 | SLC52A3 | Achchuthan Shanmugasundram Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1 211530; Fazio-Londe disease 211500 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530; Brown-Vialetto-van Laere syndrome 1, MONDO:0024537; ?Fazio-Londe disease, OMIM:211500; riboflavin transporter deficiency, MONDO:0008891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.101 | SLC52A3 | Achchuthan Shanmugasundram Publications for gene: SLC52A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.100 | SLC52A3 |
Achchuthan Shanmugasundram changed review comment from: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Only one variant was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state.; to: There is strong evidence available for the association of biallelic variants in SLC52A3 with human disease. Biallelic variants are associated with relevant phenotypes in OMIM (MIMs #211530 & #211500, last accessed 20 March 2026) and Gene2Phenotype (with definitive ratings on DD and Ear panels). Autosomal recessive variants are associated with Brown-Vialetto-van Laere syndrome 1 phenotype (MONDO:0024537) with 'definitive' rating on ClinGen by the Hearing Loss GCEP (https://search.clinicalgenome.org/CCID:006194). There is also evidence available for the association of monoallelic SLC52A3 variants with human disease, despite not being associated with phenotypes in OMIM, G2P, ClinGen or PanelApp Australia. PMID:22718020 (2012) reported three patients with Brown-Vialetto-Van Laere syndrome. Only one variant was identified in SLC52A3 by Sanger sequencing in two of these three patents. PMID:29053833 (2017) reported five patients with monoallelic variants identified by PCR and Sanger sequencing. They showed phenotypes indistinguishable from biallelic cases in severity, age of onset, and clinical features. The authors used array CGH to exclude large deletions/duplications on the second allele. PMID:34384672 (2021) reported three patients with adult-onset Brown-Vialetto-van Laere syndrome and with SLC52A3 variants, of which one patient was identified with a heterozygous variant. PMID:38469093 (2024) reported a 16-year-old female with a phenotype consistent with riboflavin transporter deficiency. She was identified with a novel heterozygous variant, identified by WGS. Her asymptomatic brother was also identified with the same heterozygous variant, directly demonstrating reduced penetrance for this monoallelic state. Her condition however improved in response to riboflavin supplementation. PMID:40539137 (2025) reported a 68-year-old female patient with atypical late-onset Brown-Vialetto-Van Laere syndrome carrying a variant (p.Val413Ala) previously seen only in compound heterozygous patients in heterozygous state. |
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| Likely inborn error of metabolism v8.100 | SLC52A3 | Achchuthan Shanmugasundram edited their review of gene: SLC52A3: Changed publications to: 22718020, 29053833, 34384672, 38469093, 40539137; Changed phenotypes to: Brown-Vialetto-Van Laere syndrome 1, OMIM:211530, Brown-Vialetto-van Laere syndrome 1, MONDO:0024537, ?Fazio-Londe disease, OMIM:211500, riboflavin transporter deficiency, MONDO:0008891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.100 | SLC52A3 | Achchuthan Shanmugasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.98 | SLC52A3 | Eleanor Williams Source: Expert Review Red was removed from gene: SLC52A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 211530; Fazio-Londe disease 211500 |
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