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Hereditary spastic paraplegia - childhood onset v2.15 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 25609768, 30258207; Phenotypes: Spastic paraplegia 74, autosomal recessive MIM#616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - childhood onset v1.166 IBA57 Louise Daugherty commented on gene: IBA57: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - childhood onset v1.131 IBA57 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - childhood onset v1.75 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Hereditary spastic paraplegia - childhood onset v1.74 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - childhood onset v1.74 IBA57 Louise Daugherty commented on gene: IBA57: 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.
Hereditary spastic paraplegia - childhood onset v1.56 IBA57 Louise Daugherty commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted.
Hereditary spastic paraplegia - childhood onset v1.56 IBA57 Louise Daugherty Classified gene: IBA57 as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v1.56 IBA57 Louise Daugherty Gene: iba57 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v1.48 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - childhood onset v1.44 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v1.44 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v1.6 IBA57 James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - childhood onset v1.5 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Hereditary spastic paraplegia - childhood onset v1.4 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Hereditary spastic paraplegia - childhood onset v1.3 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Hereditary spastic paraplegia - childhood onset v0.6 IBA57 Sarah Leigh gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 30258207; 25609768
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451