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| Skeletal dysplasia v1.155 | PGM3 |
Eleanor Williams commented on gene: PGM3: PMID: 24931394 Stray-Pedersen et al 2014 - identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. PMID: 28543917 - Pacheco-Cuéllar et al 2017 - identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia |
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| Skeletal dysplasia v1.153 | PGM3 | Eleanor Williams Added phenotypes Immunodeficiency 23 615816 for gene: PGM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | PGM3 | Tracy Lester reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: Immunodeficiency 23 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | PGM3 | Eleanor Williams reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | PGM3 |
Eleanor Williams Source NHS GMS was added to PGM3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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