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Limb disorders v2.24 IQCE Eleanor Williams Tag for-review tag was added to gene: IQCE.
Limb disorders v2.24 IQCE Eleanor Williams Phenotypes for gene: IQCE were changed from Polydactyly, postaxial, type A7 617642 to Polydactyly, postaxial, type A7 OMIM:617642; polydactyly, postaxial, type a7 MONDO:0060550
Limb disorders v2.23 IQCE Eleanor Williams edited their review of gene: IQCE: Changed phenotypes: Polydactyly, postaxial, type A7 OMIM:617642, polydactyly, postaxial, type a7 MONDO:0060550
Limb disorders v2.23 IQCE Eleanor Williams edited their review of gene: IQCE: Changed phenotypes: Polydactyly, postaxial, type A7 OMIM:617642
Limb disorders v2.23 IQCE Eleanor Williams Publications for gene: IQCE were set to 28488682
Limb disorders v2.22 IQCE Eleanor Williams Classified gene: IQCE as Amber List (moderate evidence)
Limb disorders v2.22 IQCE Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with recommendation of promoting to green following GMS review. 4 cases now reported.
Limb disorders v2.22 IQCE Eleanor Williams Gene: iqce has been classified as Amber List (Moderate Evidence).
Limb disorders v2.21 IQCE Eleanor Williams edited their review of gene: IQCE: Added comment: PMID: 28488682 Umair et al 2017 report a large consanguineous family of Pakistani origin segregating post-axial polydactyly type A in the feet. A homozygous splice acceptor site variant (c.395-1G>A) was identified by WES in the IQCE gene, which completely co-segregated with the phenotype in the family. They report that the Iqce knockout mouse (MGI:1921489) shows various types of skeletal deformities including pre-axial polydactyly, digit abnormalities, and short and long tibia.

PMID: 31549751 - Estrada-Cuzcano et al 2019 - report 3 families with biallelic pathogenic variations in IQCE identified by WES. The same variant c.895_904del (p.Val301Serfs*8) was found in all families without sharing a common haplotype, suggesting a recurrent mechanism. In one family this variant as compound heterozygous with another IQCE variant p.Glu451Argfs*15. These families with post-axial polydactyly were initially recruited as syndromic ciliopathies and two have additional pathogenic variations in other genes (TULP1 and ATP6V1B1) explaining their apparent syndromic phenotype. Functional studies based on the patient's cells or zebrafish (Danio rerio) assays confirm the ciliary role of IQCE.; Changed rating: GREEN; Changed publications: 28488682, 31549751; Changed phenotypes: postaxial polydactyly MONDO:0020927; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v2.5 IQCE Zornitza Stark edited their review of gene: IQCE: Set current diagnostic: yes
Limb disorders v2.5 IQCE Zornitza Stark reviewed gene: IQCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31549751, 28488682; Phenotypes: Postaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.146 IQCE Eleanor Williams commented on gene: IQCE
Limb disorders IQCE Rachel Jones reviewed IQCE
Limb disorders IQCE Ellen McDonagh marked IQCE as ready
Limb disorders IQCE Ellen McDonagh classified IQCE as Red List (low evidence)
Limb disorders IQCE Ellen McDonagh Added gene to panel