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Congenital myopathy v7.34 JPH1 Achchuthan Shanmugasundram Classified gene: JPH1 as Amber List (moderate evidence)
Congenital myopathy v7.34 JPH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated individuals with Congenital myopathy 25 and with biallelic JPH1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Congenital myopathy v7.34 JPH1 Achchuthan Shanmugasundram Gene: jph1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v7.33 JPH1 Achchuthan Shanmugasundram Phenotypes for gene: JPH1 were changed from to Congenital myopathy 25, OMIM:620964; congenital myopathy 25, MONDO:0975808
Congenital myopathy v7.32 JPH1 Achchuthan Shanmugasundram Publications for gene: JPH1 were set to
Congenital myopathy v7.31 JPH1 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: JPH1.
Tag Q2_26_NHS_review tag was added to gene: JPH1.
Congenital myopathy v7.31 JPH1 Achchuthan Shanmugasundram reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39209426; Phenotypes: Congenital myopathy 25, OMIM:620964, congenital myopathy 25, MONDO:0975808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v7.14 JPH1 Anna Sarkozy reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v7.7 JPH1 Arina Puzriakova Classified gene: JPH1 as No list
Congenital myopathy v7.7 JPH1 Arina Puzriakova Gene: jph1 has been removed from the panel.
Congenital myopathy v7.6 JPH1 Arina Puzriakova gene: JPH1 was added
gene: JPH1 was added to Congenital myopathy. Sources: NHS GMS
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal