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Amelogenesis imperfecta v3.11 AMBN Arina Puzriakova Tag Q2_24_MOI was removed from gene: AMBN.
Amelogenesis imperfecta v3.11 AMBN Arina Puzriakova reviewed gene: AMBN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v3.10 AMBN Arina Puzriakova Source NHS GMS was added to AMBN.
Mode of inheritance for gene AMBN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: AMBN.
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of both monoallelic and biallelic AMBN variants with amelogenesis imperfecta. However, only the autosomal recessive phenotype has been reported in OMIM.

The MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Mode of inheritance for gene: AMBN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v3.8 AMBN Achchuthan Shanmugasundram Phenotypes for gene: AMBN were changed from Amelogenesis imperfecta, type IF, 616270 to Amelogenesis imperfecta, type IF, OMIM:616270
Amelogenesis imperfecta v3.7 AMBN Achchuthan Shanmugasundram Publications for gene: AMBN were set to 24858907; 26502894
Amelogenesis imperfecta v3.6 AMBN Achchuthan Shanmugasundram reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30174330, 31402633, 38058155; Phenotypes: Amelogenesis imperfecta, type IF, OMIM:616270; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v3.3 AMBN Claire Smith edited their review of gene: AMBN: Added comment: PMID: 38058155 identifies AMBN variants that appear to cause disease in an autosomal dominant fashion.
One family has a dominant family history spanning 4 generations, and the likely causative variant in this family was also identified as monoallelic/heterozygous in 2 other apparently unrelated individuals with isolated AI.; Changed publications to: PMID: 24858907, 26502894, 38058155; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta AMBN Rebecca Foulger marked AMBN as ready
Amelogenesis imperfecta AMBN Rebecca Foulger edited their review of AMBN
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as green
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as amber
Amelogenesis imperfecta AMBN Rebecca Foulger commented on AMBN
Amelogenesis imperfecta AMBN Claire Smith reviewed AMBN