Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Ivone Leong Tag Q2_21_MOI was removed from gene: AFG3L2.
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v2.129 AFG3L2 Ivone Leong Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh reviewed gene: AFG3L2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive OMIM:614487, spastic ataxia 5 MONDO:0013776, Spinocerebellar ataxia 28 OMIM:610246, spinocerebellar ataxia type 28 MONDO:0012450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: AFG3L2.
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Childhood onset hereditary spastic paraplegia v1.162 AFG3L2 Louise Daugherty Publications for gene: AFG3L2 were set to
Childhood onset hereditary spastic paraplegia v1.161 AFG3L2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.73 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101804, 22022284, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive. Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.4 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.3 AFG3L2 Louise Daugherty Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Childhood onset hereditary spastic paraplegia v0.63 AFG3L2 Louise Daugherty Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.62 AFG3L2 Arianna Tucci commented on gene: AFG3L2
Childhood onset hereditary spastic paraplegia v0.6 AFG3L2 Sarah Leigh gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive