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| Hereditary Spastic Paraplegia - paediatric v1.61 | MARS | Zornitza Stark Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 to Spastic paraplegia 70, autosomal recessive, MIM# 620323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.60 | MARS | Zornitza Stark Publications for gene: MARS were set to 24482476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.59 | MARS | Zornitza Stark Classified gene: MARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.59 | MARS | Zornitza Stark Gene: mars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.58 | MARS | Zornitza Stark reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 34585293; Phenotypes: Spastic paraplegia 70, autosomal recessive, MIM# 620323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.172 | MARS | Zornitza Stark Marked gene: MARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.172 | MARS | Zornitza Stark Gene: mars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.172 | MARS | Zornitza Stark Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.105 | RAB3GAP2 |
Elena Savva gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to PMID: 32376645 Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome 212720 Review for gene: RAB3GAP2 was set to GREEN Added comment: PMID: 32376645 - 1 patient with bilateral clinodactyly and syndactyly, normal MRI and learning difficulties. Review of previous reports notes 9 additional patients (4 families) with Marsolf syndrome, with postnatal microcephaly (5/9), congenital cataracts (7/9), limb spasticity (7/9) and optic nerve atrophy (2/9). Sources: Literature |
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| Hereditary Spastic Paraplegia - paediatric v0.74 | MARS | Bryony Thompson reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.64 | MARS2 | Bryony Thompson Marked gene: MARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.64 | MARS2 | Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.64 | MARS2 | Bryony Thompson Classified gene: MARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.64 | MARS2 | Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.63 | MARS2 |
Bryony Thompson gene: MARS2 was added gene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list SV/CNV tags were added to gene: MARS2. Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 16672289; 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390 Review for gene: MARS2 was set to GREEN Added comment: Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia. Sources: Expert list |
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| Hereditary Spastic Paraplegia - paediatric v0.0 | MARS |
Bryony Thompson gene: MARS was added gene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 24482476 Phenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia |
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