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Intellectual disability v8.183 WFS1 Achchuthan Shanmugasundram changed review comment from: PMID:39767643 reported the identification of an ultra-rare, mono-allelic missense variant in the WFS1 gene (p. Asp711Asn) in a nine-year-old girl that showed phenotypic manifestations of intellectual impairment, microcephaly, and epilepsy. There was a positive family history in previous generations for cognitive impairment.; to: PMID:39767643 reported the identification of an ultra-rare, mono-allelic missense variant in the WFS1 gene (p. Asp711Asn) in a nine-year-old girl that showed phenotypic manifestations of intellectual impairment, microcephaly, and epilepsy. There was a positive family history in previous generations for cognitive impairment.

Although there are multiple phenotypes available for this gene in OMIM, mental retardation/ cognitive impairment has been recorded as a clinical manifestation seen in some patients with the autosomal recessive Wolfram syndrome 1 (MIM #222300). However, ID has not been associated with any autosomal dominant syndromes. In addition, ID forms part of a broader phenotype.

Hence, this gene can only be rated red for both monoallelic and biallelic disease associations in this panel.
Intellectual disability v8.183 WFS1 Achchuthan Shanmugasundram edited their review of gene: WFS1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v8.183 WFS1 Achchuthan Shanmugasundram edited their review of gene: WFS1: Changed rating: RED
Intellectual disability v8.183 WFS1 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39767643 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.183 WFS1 Achchuthan Shanmugasundram Publications for gene: WFS1 were set to
Intellectual disability v8.182 WFS1 Achchuthan Shanmugasundram reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39767643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.519 WFS1 Arina Puzriakova Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296
Intellectual disability v3.518 WFS1 Arina Puzriakova Mode of inheritance for gene: WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.517 WFS1 Arina Puzriakova commented on gene: WFS1
Intellectual disability v3.3 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, MIM# 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.468 WFS1 Louise Daugherty gene: WFS1 was added
gene: WFS1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to