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| Hereditary Neuropathy - complex v0.164 | B4GALNT1 | Zornitza Stark Marked gene: B4GALNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.164 | B4GALNT1 | Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.164 | B4GALNT1 | Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy to Spastic paraplegia 26, autosomal recessive (MIM#609195; MONDO:0012213) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.163 | B4GALNT1 | Zornitza Stark Publications for gene: B4GALNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.162 | B4GALNT1 | Zornitza Stark Classified gene: B4GALNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.162 | B4GALNT1 | Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.149 | B4GALNT1 | Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.149 | B4GALNT1 |
Sangavi Sivagnanasundram changed review comment from: Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682) PMID: 23746551 5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability. All affected individuals in the families had homozygous mutations in B4GALNT1; to: Neuropathy is not a prominent feature in individuals Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682) PMID: 23746551 5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability. All affected individuals in the families had homozygous mutations in B4GALNT1 |
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| Hereditary Neuropathy - complex v0.149 | B4GALNT1 | Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.149 | B4GALNT1 | Sangavi Sivagnanasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM#609195, MONDO:0012213); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | B4GALNT1 |
Bryony Thompson gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy |
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