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| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 |
Ida Ertmanska changed review comment from: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo heterozygous missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. ; to: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo heterozygous missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, with or without cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. |
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| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: FBXO31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 |
Ida Ertmanska changed review comment from: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo heterozygous missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update.; to: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo heterozygous missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. |
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| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 | Ida Ertmanska changed review comment from: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update.; to: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo heterozygous missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 | Ida Ertmanska Classified gene: FBXO31 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated cases reported in literature with a recurrent de novo missense variant in FBXO31, presenting with childhood-onset spasticity, dystonia, ID, and cerebral abnormalities on MRI. Hence, this gene can be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.37 | FBXO31 | Ida Ertmanska Gene: fbxo31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.36 | FBXO31 |
Ida Ertmanska gene: FBXO31 was added gene: FBXO31 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: FBXO31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO31 were set to 32989326; 33675180 Phenotypes for gene: FBXO31 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: FBXO31 was set to GREEN Added comment: PMID: 32989326 Jin et al., 2020 Report of 2 unrelated patients with the same de novo FBXO31 mutation 16:87367889:C:T, p.Asp334Asn. Disease onset was under age two years. F218-003 - Female, European, presented with spastic diplegia, as well as Esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus. F699-003 - Male, European, presented with spastic paraplegia, as well as Ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation. PMID: 33675180 Dzinovic et al., 2021 Report of a 9yo boy of Slovakian descent, with a de novo FBXO31 variant c.1000G>A (p.Asp334Asn) - trio WES. He presented with complex, non‐progressive movement‐disorder syndrome dominated by spasticity and dystonia. Brain MRI showed bilateral occipital and parietal white‐matter volume reduction, irregular white‐matter dysmyelination. Intellectual disability estimated at Moderate severity (no IQ assessment; loss of speech at the age of 1.5 years, receptive language disorder) Sources: Literature |
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