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Intellectual disability - microarray and sequencing v5.474 EFNB1 Arina Puzriakova Classified gene: EFNB1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.474 EFNB1 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber as a literature search did reveal evidence to suggest that some individuals may develop intellectual deficits. However, in most affected cases this was a mild presentation and there are more prominent and recognisable features observed in the general group of EFNB1-related cases which are more likely to inform diagnostic testing (e.g. craniosynostosis and clefting).
Intellectual disability - microarray and sequencing v5.474 EFNB1 Arina Puzriakova Gene: efnb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.473 EFNB1 Arina Puzriakova Added comment: Comment on publications: PMID: 25679214 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 - microarray and sequencing v5.473 EFNB1 Arina Puzriakova Publications for gene: EFNB1 were set to 23335590
Intellectual disability - microarray and sequencing v5.472 EFNB1 Arina Puzriakova reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23335590, 25679214, 27650623, 31088393, 24520368; Phenotypes: Craniofrontonasal dysplasia, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v5.472 EFNB1 Arina Puzriakova Phenotypes for gene: EFNB1 were changed from Gene2Phenotype confirmed gene with ID HPO to Craniofrontonasal dysplasia, OMIM:304110
Intellectual disability - microarray and sequencing v5.471 EFNB1 Arina Puzriakova Publications for gene: EFNB1 were set to
Intellectual disability - microarray and sequencing v2.468 EFNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EFNB1.
Intellectual disability - microarray and sequencing EFNB1 Ellen McDonagh classified EFNB1 as Red List (low evidence)
Intellectual disability - microarray and sequencing EFNB1 BRIDGE consortium edited their review of EFNB1
Intellectual disability - microarray and sequencing EFNB1 BRIDGE consortium edited their review of EFNB1
Intellectual disability - microarray and sequencing EFNB1 Louise Daugherty classified EFNB1 as amber
Intellectual disability - microarray and sequencing EFNB1 Louise Daugherty commented on EFNB1
Intellectual disability - microarray and sequencing EFNB1 BRIDGE consortium reviewed EFNB1