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Rare multisystem ciliopathy disorders v1.114 IFT81 Rebecca Foulger commented on gene: IFT81: Amber rating agreed with Genomics England Clinical team: Gene is in the right pathway but 3/4 cases to date have one variant that is not able to be classified as pathogenic/likely pathogenic.
Rare multisystem ciliopathy disorders v1.106 IFT81 Rebecca Foulger commented on gene: IFT81: Added watchlist tag.
Rare multisystem ciliopathy disorders v1.106 IFT81 Rebecca Foulger Tag watchlist tag was added to gene: IFT81.
Rare multisystem ciliopathy disorders v1.106 IFT81 Rebecca Foulger Classified gene: IFT81 as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.106 IFT81 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Associated with OMIM:617895 but not yet associated with a disorder in Gene2Phenotype. Functional data supports a ciliopathy association: IFT81 is part of the IFT-B complex involved in the bidirectional transport of ciliary proteins. Green review from Zornitza based on 3 (or 4) individuals identified in the literature with a Cliopathy phenotype and biallelic IFT81 variants. However in the two cases from PMID:26275418, OMIM classes the variants as VUS. Therefore on balance have classed as Amber awaiting further cases or clarification of the variants in PMID:26275418.
Rare multisystem ciliopathy disorders v1.106 IFT81 Rebecca Foulger Gene: ift81 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.105 IFT81 Rebecca Foulger commented on gene: IFT81: Duran et al. 2016 (PMID:27666822) identify two individuals with skeletal ciliopathies: R98-443 with sphyxiating thoracic dystrophy (ATD), and R13-147A with Short-rib polydactyly syndromes (SRPS). Exome sequencing revealed compound het variants in IFT81 in both cases: p.Leu29Phe and p.Arg512* in R98-443, and p.Leu262* and p.Leu435del in R13-147A.
Rare multisystem ciliopathy disorders v1.105 IFT81 Rebecca Foulger changed review comment from: Perrault et al., 2015 (PMID:26275418) screened 1628 individuals with reno-ocular ciliopathies by sequencing of ciliary candidate genes and identified recessive ITF81 variants in two consanguineous families with a ciliopathy phenotype.
They identified a homozygous variant in IFT81 in one individual (A3286-21) with a nephronophthisis-related ciliopathy, polydactyly and moderate intellectual disability (delayed speech and an IQ of 70). They identified a loss-of-stop variant in IFT81 in a second individual (NCK-033) with neuronal ceroid lipofuscinosis-1. This proband presented with retinal dystrophy (RD), brain lesions and mild intellectual disability. The patient also harboured 9 additional rare homozygous variants including a missense change (Gly245Arg) in the gene PPT1, accounting for the clinical diagnosis of neuronal ceroid lipofuscinosis-1. Both these variants have currently been classed as VUS in OMIM.; to: Perrault et al., 2015 (PMID:26275418) screened 1628 individuals with reno-ocular ciliopathies by sequencing of ciliary candidate genes and identified recessive ITF81 variants in two consanguineous families with a ciliopathy phenotype.
They identified a homozygous variant in IFT81 in one individual (A3286-21) with a nephronophthisis-related ciliopathy, polydactyly and moderate intellectual disability (delayed speech and an IQ of 70). They identified a loss-of-stop variant in IFT81 in a second individual (NCK-033) with neuronal ceroid lipofuscinosis-1. This proband presented with retinal dystrophy (RD), brain lesions and mild intellectual disability. The patient also harboured 9 additional rare homozygous variants including a missense change (Gly245Arg) in the gene PPT1, accounting for the clinical diagnosis of neuronal ceroid lipofuscinosis-1. Both these variants have currently been classed as VUS in OMIM.
Rare multisystem ciliopathy disorders v1.105 IFT81 Rebecca Foulger commented on gene: IFT81
Rare multisystem ciliopathy disorders v1.105 IFT81 Rebecca Foulger Mode of inheritance for gene: IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.104 IFT81 Rebecca Foulger Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Rare multisystem ciliopathy disorders v1.103 IFT81 Rebecca Foulger Publications for gene: IFT81 were set to
Rare multisystem ciliopathy disorders IFT81 Zornitza Stark reviewed gene: IFT81
Rare multisystem ciliopathy disorders IFT81 Alice Gardham marked IFT81 as ready
Rare multisystem ciliopathy disorders IFT81 Alice Gardham commented on IFT81