Activity
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| Optic neuropathy v5.47 | BORCS5 |
Ida Ertmanska gene: BORCS5 was added gene: BORCS5 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS5 were set to 27435318; 40385417; 40621786 Phenotypes for gene: BORCS5 were set to arthrogryposis multiplex congenita, MONDO:0015168; neurodevelopmental disorder, MONDO:0700092 Review for gene: BORCS5 was set to GREEN Added comment: PMID: 40621786 Fisher et al., 2025 Report of 2 fetal cases in a consanguineous Pakistani family. Exome seq revealed a homozygous nonsense variant c.283C>T, p.(Arg95Ter) in BORCS5 (NM_058169.4). Individuals showed neuroaxonal dystrophy with osteopetrosis. PMID: 40385417 Mencacci et al., 2025 - pre-print Report of 12 individuals from 7 unrelated families with biallelic BORCS5 variants (NM_058169.4): two missense variants (c.284G>A, p.R95Q; c.296A>C, p.H99P) and four LoF alleles (c.203–1G>T, p.?; c.316delG, p.A106Pfs*20; c.382_383delAG, p.L128Vfs*86; c.417C>G, p.Y139*). Table 1 = phenotypic spectrum of 6 individuals from families 1-4: profound ID (6/6), severe spasticity (6/6), seizures (6/6), hyperreflexia (6/6), Parkinsonism/dystonia (3/6), limb contractures (5/6), optic atrophy (5/6), abnormal brain MRI including cerebral atrophy and/or corpus callosum agenesis (5/6), microcephaly (6/6 - severity not stated), muscle atrophy (5/6). Infantile onset. Neuroimaging in 5 cases showed cerebral atrophy, white matter loss, hypomyelination, small T2-hypointense thalami, thin brainstem, and optic nerve atrophy. PMID: 27435318 Charng et al., 2016 Patient BAB6775 homozygous for NM_058169.4 BORCS5: c.203-1G>T, with DD, microcephaly, seizures, cortical malformations, polymicrogyria, agenesis of corpus callosum. Also reported with more details in PMID:40385417 (do not count). Additional functional evidence: Zebrafish borcs5 knockout leads to neurodevelopmental defects:microcephaly, ventriculomegaly, movement disorders and epilepsy. BORCS5 is not yet associated with a disease in OMIM (accessed 20th Feb 2026). Sources: Literature |
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| Optic neuropathy v4.40 | MAG | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: MAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.40 | MAG | Achchuthan Shanmugasundram reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.39 | MAG |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v3.11 | MAG | Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v3.18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.11 | MAG |
Arina Puzriakova gene: MAG was added gene: MAG was added to Optic neuropathy. Sources: Yorkshire and North East GLH,London North GLH,Literature,Expert Review Amber,NHS GMS Q1_23_promote_green tags were added to gene: MAG. Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919; 31402626; 32629324; 32340215 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, OMIM:616680 |
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