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| Optic neuropathy v3.7 | SLC44A1 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: SLC44A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | SLC44A1 | Achchuthan Shanmugasundram reviewed gene: SLC44A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | SLC44A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC44A1. Source NHS GMS was added to SLC44A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.37 | SLC44A1 | Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.37 | SLC44A1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including optic nerve atrophy (PMID: 31855247). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.37 | SLC44A1 | Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.36 | SLC44A1 |
Arina Puzriakova gene: SLC44A1 was added gene: SLC44A1 was added to Optic neuropathy. Sources: Literature Q2_21_rating tags were added to gene: SLC44A1. Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC44A1 were set to 31855247 Phenotypes for gene: SLC44A1 were set to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028 Review for gene: SLC44A1 was set to GREEN Added comment: Associated with relevant phenotype in OMIM (MIM# 618868), but not yet in Gene2Phenotype. - PMID: 31855247 (2020) - Four individuals from three families with different homozygous frameshift variants (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in SLC44A1. Clinical features in all affected individuals included progressive ataxia, tremor, cognitive decline, bilateral optic nerve atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Functional studies indicate choline transporter deficiency as the underlying pathological mechanism. Sources: Literature |
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