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| Lipodystrophy_Lipoatrophy v0.83 | PSMB8 |
Zornitza Stark changed review comment from: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia. This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). More than 10 molecularly confirmed cases reported. Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.; to: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia. This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). More than 10 molecularly confirmed cases reported. Digenic inheritance has been proposed in some individuals with variants in other PSMB genes. |
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| Lipodystrophy_Lipoatrophy v0.83 | PSMB8 | Zornitza Stark Marked gene: PSMB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.83 | PSMB8 | Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.83 | PSMB8 | Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.82 | PSMB8 | Zornitza Stark Publications for gene: PSMB8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.81 | PSMB8 | Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.80 | PSMB8 | Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.11 | PSMB4 |
Zornitza Stark gene: PSMB4 was added gene: PSMB4 was added to Lipodystrophy_Lipoatrophy. Sources: Expert list Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB4 were set to 26524591 Phenotypes for gene: PSMB4 were set to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Review for gene: PSMB4 was set to AMBER Added comment: Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anaemia, thrombocytopaenia, recurrent infections, autoantibodies, and hypergammaglobulinaemia. Some may have intracranial calcifications. One individual with bi-allelic variants, and two others with mono-allelic variants in PSMB4 as well as variants in PSMB9 or PSMB8, digenic model proposed. Sources: Expert list |
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| Lipodystrophy_Lipoatrophy v0.0 | PSMB8 |
Zornitza Stark gene: PSMB8 was added gene: PSMB8 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSMB8 was set to Unknown |
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