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Intellectual disability - microarray and sequencing v3.1519 CDH15 Ivone Leong Tag watchlist was removed from gene: CDH15.
Intellectual disability - microarray and sequencing v3.1519 CDH15 Ivone Leong Tag Q4_21_rating was removed from gene: CDH15.
Tag watchlist tag was added to gene: CDH15.
Intellectual disability - microarray and sequencing v3.1519 CDH15 Sarah Leigh commented on gene: CDH15
Intellectual disability - microarray and sequencing v3.1519 CDH15 Ivone Leong Source Expert Review Red was added to CDH15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability - microarray and sequencing v3.1381 CDH15 Arina Puzriakova Tag Q4_21_rating tag was added to gene: CDH15.
Intellectual disability - microarray and sequencing v3.1381 CDH15 Arina Puzriakova Classified gene: CDH15 as Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1381 CDH15 Arina Puzriakova Added comment: Comment on list classification: Gene should be demoted to Red as there is limited evidence supporting this gene-disease association. The only cases reported to date with SNVs were discovered by targeted sequencing of CDH15. Clinical information was limited, describing only mild ID in some cases. There are also multiple benign LOF variants in population databases. Asymptomatic carriers lead authors to suggest incomplete penetrance but all identified variants are in gnomAD so are unlikely to be causal.
Intellectual disability - microarray and sequencing v3.1381 CDH15 Arina Puzriakova Gene: cdh15 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v3.1380 CDH15 Arina Puzriakova Publications for gene: CDH15 were set to
Intellectual disability - microarray and sequencing v3.1379 CDH15 Arina Puzriakova Phenotypes for gene: CDH15 were changed from Mental retardation, autosomal dominant 3, 612580; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 (MRD3) to Mental retardation, autosomal dominant 3, OMIM:612580
Intellectual disability - microarray and sequencing v3.1313 CDH15 Zornitza Stark reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: 19012874, 12052883, 28422132, 26506440; Phenotypes: Mental retardation, autosomal dominant 3, MIM#612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v2.468 CDH15 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDH15.
Intellectual disability - microarray and sequencing CDH15 BRIDGE consortium edited their review of CDH15
Intellectual disability - microarray and sequencing CDH15 BRIDGE consortium edited their review of CDH15
Intellectual disability - microarray and sequencing CDH15 BRIDGE consortium reviewed CDH15