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Monogenic hearing loss v3.3 | SLC52A2 | Achchuthan Shanmugasundram Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, OMIM:614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, MONDO:0013867; Sensorineural hearing loss disorder, MONDO:0020678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.2 | SLC52A2 | Achchuthan Shanmugasundram Publications for gene: SLC52A2 were set to 22740598; 22864630; 23243084; 24253200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.1 | SLC52A2 | Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 22864630, 23243084, 24253200, 30343981, 30377535, 31868069, 35608644, 36186484; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.234 | SLC52A2 | Eleanor Williams Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 #614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.233 | SLC52A2 | Eleanor Williams Tag for-review was removed from gene: SLC52A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.221 | SLC52A2 | Eleanor Williams commented on gene: SLC52A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.220 | SLC52A2 |
Eleanor Williams Source Expert Review Green was added to SLC52A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Monogenic hearing loss v2.95 | SLC52A2 | Arina Puzriakova Classified gene: SLC52A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.95 | SLC52A2 | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.95 | SLC52A2 | Arina Puzriakova Gene: slc52a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.18 | SLC52A2 | Eleanor Williams Tag for-review tag was added to gene: SLC52A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.18 | SLC52A2 | Eleanor Williams Tag treatable tag was added to gene: SLC52A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.18 | SLC52A2 | Eleanor Williams Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.18 | SLC52A2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases reported in patients with Brown-Vialetto-Van Laere syndrome 2 and variants in this gene. Expert reviewer reports that hearing loss may be the first presentation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.18 | SLC52A2 | Eleanor Williams Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.17 | SLC52A2 | Eleanor Williams Phenotypes for gene: SLC52A2 were changed from to Brown-Vialetto-Van Laere syndrome 2 #614707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.16 | SLC52A2 | Eleanor Williams Publications for gene: SLC52A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.15 | SLC52A2 | Eleanor Williams Mode of inheritance for gene: SLC52A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.14 | SLC52A2 | Eleanor Williams edited their review of gene: SLC52A2: Changed publications: 22740598, 22864630, 23243084, 24253200; Changed phenotypes: Brown-Vialetto-Van Laere syndrome 2 #614707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.14 | SLC52A2 | Eleanor Williams edited their review of gene: SLC52A2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.14 | SLC52A2 |
Eleanor Williams commented on gene: SLC52A2: Associated with Brown-Vialetto-Van Laere syndrome 2 #614707 (AR) in OMIM. Early childhood onset of sensorineural deafness is a feature along with bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Numerous cases have been reported with variants in the SLC52A2 gene and Brown-Vialetto-Van Laere syndrome 2: PMID: 22740598 Johnson et al 2012 - used linkage and exome sequencing to identify a novel mutation (p.G306R (c.916G>A)) in SLC52A2 in an extended Lebanese Brown-Vialetto-Van Laere kindred. The same homozygous mutation was identified in one additional subject from the UK, from 44 screened. PMID: 22864630 Haack et al 2012 - exome sequencing of a single case with Brown-Vialetto-Van Laere syndrome showed compound heterozygosity for two pathogenic mutations in the SLC52A2 gene. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. PMID: 23243084 Ciccolella et al 2013 - 1 case of a severe BVVL patient with two novel compound heterozygous mutations in SLC52A2 (c.155C>T, p.S52F and c.1255G>A, p.G419S). Functional studies show that these variants impair the gene expression of the corresponding transporter, resulting in a significant reduction of riboflavin transport. PMID: 24253200 Foley et al 2014 - using exome and sanger sequencing identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy, hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression. |
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Monogenic hearing loss v2.9 | SLC52A2 |
Eleanor Williams changed review comment from: Gene suggested for panel by Dr Julia Rankin (Royal Devon and Exeter NHS Foundation Trust) Sources: Expert list; to: Gene suggested for panel by Dr Julia Rankin (Royal Devon and Exeter NHS Foundation Trust). Sensorineural deafness is the presenting feature in cases presenting after infancy with other neurology a year or 2 later – treatment with Riboflavin can be effective. Sources: Expert list |
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Monogenic hearing loss v2.9 | SLC52A2 |
Eleanor Williams gene: SLC52A2 was added gene: SLC52A2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to Unknown Added comment: Gene suggested for panel by Dr Julia Rankin (Royal Devon and Exeter NHS Foundation Trust) Sources: Expert list |