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Intellectual disability v3.1514 FA2H Arina Puzriakova Tag for-review was removed from gene: FA2H.
Intellectual disability v3.1510 FA2H Sarah Leigh commented on gene: FA2H: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1509 FA2H Arina Puzriakova Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.484 FA2H Sarah Leigh Tag for-review tag was added to gene: FA2H.
Intellectual disability v3.484 FA2H Sarah Leigh reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v3.0 FA2H Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.1138 FA2H Rebecca Foulger Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, 612319; spastic paraplegia with ID; cognitive defects; Seizures
Intellectual disability v2.1137 FA2H Rebecca Foulger Publications for gene: FA2H were set to 24833714; 20104589
Intellectual disability v2.1136 FA2H Rebecca Foulger Classified gene: FA2H as Green List (high evidence)
Intellectual disability v2.1136 FA2H Rebecca Foulger Added comment: Comment on list classification: Upgraded from Amber to Green based on Green review by Alistair Pagnamenta: PMID:31135052 analysed a cohort of 19 cases with biallelic FA2H variants. Phenotype includes spastic paraplegia associated with ID: mild cognitive deficits were noted from childhood in 93% of cases, and were considered progressive in all but two cases.
Intellectual disability v2.1136 FA2H Rebecca Foulger Gene: fa2h has been classified as Green List (High Evidence).
Intellectual disability v2.1135 FA2H Alistair Pagnamenta reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31135052, 20104589; Phenotypes: HSP, ID, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability FA2H BRIDGE consortium edited their review of FA2H
Intellectual disability FA2H BRIDGE consortium edited their review of FA2H
Intellectual disability FA2H Louise Daugherty classified FA2H as amber
Intellectual disability FA2H Louise Daugherty commented on FA2H
Intellectual disability FA2H BRIDGE consortium reviewed FA2H