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Growth failure in early childhood v3.34 | IGFALS | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Short stature;Delayed puberty;Very low IGF-I levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.34 | IGFALS | Arina Puzriakova Phenotypes for gene: IGFALS were changed from Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | IGFALS | Achchuthan Shanmugasundram Tag Q1_23_expert_review was removed from gene: IGFALS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | IGFALS | Catherine Snow commented on gene: IGFALS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | IGFALS |
Catherine Snow Source Expert Review Green was added to IGFALS. Source NHS GMS was added to IGFALS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.11 | IGFALS | Arina Puzriakova Publications for gene: IGFALS were set to 14762184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: IGFALS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova edited their review of gene: IGFALS: Changed publications to: 14762184, 16507628, 17726072, 18303074, 20591980, 21396577, 23488611, 24819402, 24423360, 27018247, 30717585, 36348166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: None; Publications: 14762184, 16507628, 17726072, 18303074, 20591980, 23488611, 24819402, 27018247, 30717585, 36348166; Phenotypes: Acid-labile subunit, deficiency of, OMIM:615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova Phenotypes for gene: IGFALS were changed from Short stature; delayed puberty; very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | IGFALS | Eleanor Williams reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | IGFALS | Rebecca Foulger reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.22 | IGFALS |
Rebecca Foulger Source Expert Review Red was added to IGFALS. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.1 | IGFALS |
Ellen McDonagh gene: IGFALS was added gene: IGFALS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFALS were set to 14762184 Phenotypes for gene: IGFALS were set to Short stature; delayed puberty; very low IGF-I levels |